Materiały źródłowe

• #1 Cystic Fibrosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1001602-overview

  Cystic fibrosis is an autosomal recessive disease caused by defects in the CFTR gene, which encodes for a protein that functions as a chloride channel, and also regulates the flow of other ions across the apical surface of epithelial cells. In 1989, the CF locus was localized through linkage analysis to the long arm of human chromosome 7, band q31. […] Thus far, 1893 CFTR mutations have been identified. […] Half of affected individuals of northern European descent are homozygous for the F508 mutation, which is the deletion of a single phenylalanine residue at amino acid 508 of the CFTR gene (a class II defect). […] CFTR mutations result in abnormalities of cAMP-regulated chloride transport across epithelial cells on mucosal surfaces. The failure of chloride conductance by epithelial cells and associated water transport abnormalities result in viscid secretions in the respiratory tract, pancreas, GI tract, sweat glands, and other exocrine tissues. Increased viscosity of these secretions makes them difficult to clear.

• #2 Cystic fibrosis – Wikipedia

  https://en.wikipedia.org/wiki/Cystic_fibrosis

  Cystic fibrosis is inherited in an autosomal recessive manner. […] It is caused by the presence of mutations in both copies (alleles) of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. […] CF develops when neither allele can produce a functional CFTR protein. […] The CFTR gene, found at the q31.2 locus of chromosome 7, is 230,000 base pairs long, and encodes a protein that is 1,480 amino acids long. […] The product of this gene (the CFTR protein) is a chloride ion channel important in creating sweat, digestive juices, and mucus. […] A mutation in the CFTR gene can impair the normal function of chloride channels, leading to abnormal transport of chloride ions and water, resulting in the formation of thick and abnormal mucus. […] CF is caused by having no functional copies (alleles) of the gene cystic fibrosis transmembrane conductance regulator (CFTR).

• #3 Cystic fibrosis – Wikipedia

  https://en.wikipedia.org/wiki/Cystic_fibrosis

  Cystic fibrosis is inherited in an autosomal recessive manner. […] It is caused by the presence of mutations in both copies (alleles) of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. […] CF develops when neither allele can produce a functional CFTR protein. […] The CFTR gene, found at the q31.2 locus of chromosome 7, is 230,000 base pairs long, and encodes a protein that is 1,480 amino acids long. […] The product of this gene (the CFTR protein) is a chloride ion channel important in creating sweat, digestive juices, and mucus. […] A mutation in the CFTR gene can impair the normal function of chloride channels, leading to abnormal transport of chloride ions and water, resulting in the formation of thick and abnormal mucus. […] CF is caused by having no functional copies (alleles) of the gene cystic fibrosis transmembrane conductance regulator (CFTR).

• #4 Cystic Fibrosis: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/9358-cystic-fibrosis

  Cystic fibrosis (CF) is a genetic disease that causes sticky, thick mucus to build up in your organs, blocking and damaging them. […] Changes to the CFTR gene called variants or mutations cause cystic fibrosis. […] Yes, cystic fibrosis is a genetic condition that you’re born with. People who have CF inherit two mutated CFTR genes, one from each biological parent (it’s inherited in an autosomal recessive manner). […] You’re born with the mutation in the gene that causes cystic fibrosis. But with mild symptoms, or symptoms that come and go, some people may go undiagnosed until later in life, even as adults. […] There are different categories (classes I to VI) of gene mutation in CFTR that depend on the effect they have. Some produce no proteins at all, some produce only small amounts of proteins, and some produce proteins that don’t work properly.

• #5 About Cystic Fibrosis | Cystic Fibrosis | CDC

  https://www.cdc.gov/cystic-fibrosis/about/index.html

  Cystic fibrosis (CF) results from genetic changes (mutations) in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, which has instructions for making the CFTR protein. […] A person must have genetic changes in both copies of the CFTR gene to have CF. […] This means that parents who each have a genetic change in only one copy of the CFTR gene, and therefore do not have the disorder themselves, can together have a child with CF.

• #6 Cystic fibrosis: Symptoms, treatments, causes, and diagnosis

  https://www.medicalnewstoday.com/articles/147960

  If a person has only one copy of the malfunctioning gene, they do not develop CF but they carry it. For a person to develop CF, both biological parents must carry the malfunctioning gene. […] According to the National Organization for Rare Disorders, if two carriers have a child, there is a: 25% chance with each pregnancy that the child will have CF, 50% chance with each pregnancy that the child will be a carrier but will not have it, 25% chance that the child will not be a carrier and will not have CF.

• #7 Cystic fibrosis | NHS inform

  https://www.nhsinform.scot/illnesses-and-conditions/lungs-and-airways/cystic-fibrosis/

  Cystic fibrosis is caused by a faulty gene that a child inherits from both their parents. […] The faulty gene means that some cells struggle to move salt and water across the cell wall. This, along with recurrent infections, can result in a build-up of thick, sticky mucus in the body’s tubes and passageways particularly the lungs and digestive system. […] To be born with cystic fibrosis, a child has to inherit two copies of this faulty gene one from each of their parents. […] If both parents carry the faulty gene, there’s a 25% chance that each child they have will be born with cystic fibrosis. […] The condition is present from birth and cannot be caught from someone else who has it.

• #8 Cystic fibrosis (CF) – symptoms, causes and diagnosis | healthdirect

  https://www.healthdirect.gov.au/cystic-fibrosis-cf

  Cystic fibrosis (CF) is caused by a mutation (change) in a gene which is inherited (passed on) from your parents. […] CF is caused by a mutation (change) in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. […] About 1 in 25 people in Australia carry the CF gene. Most people dont know theyre carriers. This is because when youre a CF gene carrier you dont have any symptoms. […] Both parents must carry the CF gene for the disease to be passed to their child. If both parents carry the gene, there is: a 1 in 4 chance that your baby will have CF, a 1 in 4 chance that your baby wont have CF, a 2 in 4 chance that your baby will carry the gene for CF.

• #9 Cystic fibrosis Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/cystic-fibrosis

  Cystic fibrosis (CF) is a disease that is passed down through families. It is caused by a defective gene that makes the body produce abnormally thick and sticky fluid, called mucus. This mucus builds up in the breathing passages of the lungs and in the pancreas. […] Many people carry a CF gene, but do not have symptoms. This is because for a person to get CF, they must inherit 2 defective genes, 1 from each parent. Some Americans have the CF gene. It is more common among those of northern or central European descent.

• #10 Cystic fibrosis Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/cystic-fibrosis

  Cystic fibrosis (CF) is a disease that is passed down through families. It is caused by a defective gene that makes the body produce abnormally thick and sticky fluid, called mucus. This mucus builds up in the breathing passages of the lungs and in the pancreas. […] Many people carry a CF gene, but do not have symptoms. This is because for a person to get CF, they must inherit 2 defective genes, 1 from each parent. Some Americans have the CF gene. It is more common among those of northern or central European descent.

• #11 Cystic Fibrosis – Causes | NHLBI, NIH

  https://www.nhlbi.nih.gov/health/cystic-fibrosis/causes

  Cystic fibrosis is an inherited disease caused by mutations in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). […] People who inherit two copies of a mutated CFTR gene (one copy from each biological parent) will have cystic fibrosis. […] More than 2,000 mutations of the CFTR gene can cause cystic fibrosis. […] Children who inherit a CFTR gene with a mutation from each parent will have cystic fibrosis. […] If both parents have a normal CFTR gene and a mutated CFTR gene, each of their children has a 25% (1 in 4) chance of inheriting two genes with mutations and having cystic fibrosis.

• #12 Cystic Fibrosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1001602-overview

  Cystic fibrosis is an autosomal recessive disease caused by defects in the CFTR gene, which encodes for a protein that functions as a chloride channel, and also regulates the flow of other ions across the apical surface of epithelial cells. In 1989, the CF locus was localized through linkage analysis to the long arm of human chromosome 7, band q31. […] Thus far, 1893 CFTR mutations have been identified. […] Half of affected individuals of northern European descent are homozygous for the F508 mutation, which is the deletion of a single phenylalanine residue at amino acid 508 of the CFTR gene (a class II defect). […] CFTR mutations result in abnormalities of cAMP-regulated chloride transport across epithelial cells on mucosal surfaces. The failure of chloride conductance by epithelial cells and associated water transport abnormalities result in viscid secretions in the respiratory tract, pancreas, GI tract, sweat glands, and other exocrine tissues. Increased viscosity of these secretions makes them difficult to clear.

• #13 Cystic fibrosis – Wikipedia

  https://en.wikipedia.org/wiki/Cystic_fibrosis

  As of 2018, over 1,900 mutations leading to CF have been described, but only 5 of them have a frequency greater than 1% among patients. […] The most common mutant allele, F508 (also termed F508del), is a deletion (signifying deletion) of three nucleotides that results in a loss of the amino-acid residue phenylalanine (F) at the 508th position of the protein. […] This mutant allele is already present in 1 in 20 to 25 people of Northern European ancestry; it accounts for 70% of CF cases worldwide and 90% of cases in the United States; however, over 700 other mutant alleles, some of which represent new mutations, can produce CF.

• #14 Cystic Fibrosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1001602-overview

  Cystic fibrosis is an autosomal recessive disease caused by defects in the CFTR gene, which encodes for a protein that functions as a chloride channel, and also regulates the flow of other ions across the apical surface of epithelial cells. In 1989, the CF locus was localized through linkage analysis to the long arm of human chromosome 7, band q31. […] Thus far, 1893 CFTR mutations have been identified. […] Half of affected individuals of northern European descent are homozygous for the F508 mutation, which is the deletion of a single phenylalanine residue at amino acid 508 of the CFTR gene (a class II defect). […] CFTR mutations result in abnormalities of cAMP-regulated chloride transport across epithelial cells on mucosal surfaces. The failure of chloride conductance by epithelial cells and associated water transport abnormalities result in viscid secretions in the respiratory tract, pancreas, GI tract, sweat glands, and other exocrine tissues. Increased viscosity of these secretions makes them difficult to clear.

• #15 Cystic fibrosis – Wikipedia

  https://en.wikipedia.org/wiki/Cystic_fibrosis

  As of 2018, over 1,900 mutations leading to CF have been described, but only 5 of them have a frequency greater than 1% among patients. […] The most common mutant allele, F508 (also termed F508del), is a deletion (signifying deletion) of three nucleotides that results in a loss of the amino-acid residue phenylalanine (F) at the 508th position of the protein. […] This mutant allele is already present in 1 in 20 to 25 people of Northern European ancestry; it accounts for 70% of CF cases worldwide and 90% of cases in the United States; however, over 700 other mutant alleles, some of which represent new mutations, can produce CF.

• #16 Cystic Fibrosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1001602-overview

  Cystic fibrosis is an autosomal recessive disease caused by defects in the CFTR gene, which encodes for a protein that functions as a chloride channel, and also regulates the flow of other ions across the apical surface of epithelial cells. In 1989, the CF locus was localized through linkage analysis to the long arm of human chromosome 7, band q31. […] Thus far, 1893 CFTR mutations have been identified. […] Half of affected individuals of northern European descent are homozygous for the F508 mutation, which is the deletion of a single phenylalanine residue at amino acid 508 of the CFTR gene (a class II defect). […] CFTR mutations result in abnormalities of cAMP-regulated chloride transport across epithelial cells on mucosal surfaces. The failure of chloride conductance by epithelial cells and associated water transport abnormalities result in viscid secretions in the respiratory tract, pancreas, GI tract, sweat glands, and other exocrine tissues. Increased viscosity of these secretions makes them difficult to clear.

• #17 Cystic fibrosis – Wikipedia

  https://en.wikipedia.org/wiki/Cystic_fibrosis

  As of 2018, over 1,900 mutations leading to CF have been described, but only 5 of them have a frequency greater than 1% among patients. […] The most common mutant allele, F508 (also termed F508del), is a deletion (signifying deletion) of three nucleotides that results in a loss of the amino-acid residue phenylalanine (F) at the 508th position of the protein. […] This mutant allele is already present in 1 in 20 to 25 people of Northern European ancestry; it accounts for 70% of CF cases worldwide and 90% of cases in the United States; however, over 700 other mutant alleles, some of which represent new mutations, can produce CF.

• #18 Cystic Fibrosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK493206/

  Cystic fibrosis is caused by a genetic mutation in a gene on chromosome 7 that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This protein functions as a transmembrane cAMP-activated chloride channel. In clinical disease, both copies of the gene are mutated. More than 2000 different mutations in the CFTR gene have been identified that can cause cystic fibrosis. These mutations are divided into the following 5 classes: […] Cystic fibrosis is caused by over 2,000 possible mutations in the CFTR gene, each disrupting chloride ion transport, leading to thick mucus accumulation, organ dysfunction, and electrolyte imbalances. […] The most common mutation is [delta]F508 in exon 11, found in 70% of White patients in the United States with cystic fibrosis and two-thirds of all cases worldwide. This mutation is a class II mutation of abnormal folding of CFTR, leading to premature destruction within the Golgi apparatus.

• #19 Cystic Fibrosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK493206/

  Cystic fibrosis is caused by a genetic mutation in a gene on chromosome 7 that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This protein functions as a transmembrane cAMP-activated chloride channel. In clinical disease, both copies of the gene are mutated. More than 2000 different mutations in the CFTR gene have been identified that can cause cystic fibrosis. These mutations are divided into the following 5 classes: […] Cystic fibrosis is caused by over 2,000 possible mutations in the CFTR gene, each disrupting chloride ion transport, leading to thick mucus accumulation, organ dysfunction, and electrolyte imbalances. […] The most common mutation is [delta]F508 in exon 11, found in 70% of White patients in the United States with cystic fibrosis and two-thirds of all cases worldwide. This mutation is a class II mutation of abnormal folding of CFTR, leading to premature destruction within the Golgi apparatus.

• #20 Cystic Fibrosis: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/9358-cystic-fibrosis

  Cystic fibrosis (CF) is a genetic disease that causes sticky, thick mucus to build up in your organs, blocking and damaging them. […] Changes to the CFTR gene called variants or mutations cause cystic fibrosis. […] Yes, cystic fibrosis is a genetic condition that you’re born with. People who have CF inherit two mutated CFTR genes, one from each biological parent (it’s inherited in an autosomal recessive manner). […] You’re born with the mutation in the gene that causes cystic fibrosis. But with mild symptoms, or symptoms that come and go, some people may go undiagnosed until later in life, even as adults. […] There are different categories (classes I to VI) of gene mutation in CFTR that depend on the effect they have. Some produce no proteins at all, some produce only small amounts of proteins, and some produce proteins that don’t work properly.

• #21 Cystic Fibrosis – Symptoms, Causes, Treatment and Prevention PACE Hospitals – Best Hospitals in Hitech City, Hyderabad, India | Near Madhapur, Kukatpally, KPHB, Kondapur, Gachibowli, Jubilee Hills, Banjara HillsPACE Hospitals Contact Numb

  https://www.pacehospital.com/cystic-fibrosis-symptoms-causes-treatment-prevention

  Cystic fibrosis is only caused by a mutation in the gene called cystic fibrosis transmembrane conductance regulator (CFTR), which regulates the production of the CFTR protein. The following are the types of cystic fibrosis mutations that cause it: […] There are about 2000 mutations in the CFTR gene that can cause cystic fibrosis. These mutations are grouped into five categories: […] The result of all mutations indicates that the production of CFTR protein does not function properly and disturbs the movement of salt and water in the cells. These changes lead to the buildup of thick mucus in the lungs, digestive system, and other organs in the body. […] Children who inherit a CFTR gene with a mutation from both parents will develop cystic fibrosis. […] Cystic fibrosis is an autosomal recessive disease, meaning individuals must inherit two defective copies of the CFTR gene, one from each parent, to develop the condition.

• #22 Cystic Fibrosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK493206/

  Cystic fibrosis is caused by a genetic mutation in a gene on chromosome 7 that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This protein functions as a transmembrane cAMP-activated chloride channel. In clinical disease, both copies of the gene are mutated. More than 2000 different mutations in the CFTR gene have been identified that can cause cystic fibrosis. These mutations are divided into the following 5 classes: […] Cystic fibrosis is caused by over 2,000 possible mutations in the CFTR gene, each disrupting chloride ion transport, leading to thick mucus accumulation, organ dysfunction, and electrolyte imbalances. […] The most common mutation is [delta]F508 in exon 11, found in 70% of White patients in the United States with cystic fibrosis and two-thirds of all cases worldwide. This mutation is a class II mutation of abnormal folding of CFTR, leading to premature destruction within the Golgi apparatus.

• #23 Cystic Fibrosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1001602-overview

  Cystic fibrosis is an autosomal recessive disease caused by defects in the CFTR gene, which encodes for a protein that functions as a chloride channel, and also regulates the flow of other ions across the apical surface of epithelial cells. In 1989, the CF locus was localized through linkage analysis to the long arm of human chromosome 7, band q31. […] Thus far, 1893 CFTR mutations have been identified. […] Half of affected individuals of northern European descent are homozygous for the F508 mutation, which is the deletion of a single phenylalanine residue at amino acid 508 of the CFTR gene (a class II defect). […] CFTR mutations result in abnormalities of cAMP-regulated chloride transport across epithelial cells on mucosal surfaces. The failure of chloride conductance by epithelial cells and associated water transport abnormalities result in viscid secretions in the respiratory tract, pancreas, GI tract, sweat glands, and other exocrine tissues. Increased viscosity of these secretions makes them difficult to clear.

• #24 Cystic fibrosis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700

  Cystic fibrosis is a disorder that damages your lungs, digestive tract and other organs. It’s an inherited disease caused by a defective gene that can be passed from generation to generation. […] Simply put, cystic fibrosis is a gene defect. A defect to this gene changes how a salt moves in and out of cells, resulting in thick, sticky mucus in the respiratory, digestive and reproductive systems. It’s an inherited condition. A child needs to inherit one copy of the mutated gene from each parent to develop cystic fibrosis. […] In cystic fibrosis, a change in a gene causes problems with the protein that controls the movement of salt and water in and out of cells. This gene is the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It affects the cells that make mucus, sweat and digestive juices. When the CFTR protein doesn’t work as it should, the result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as extra salt in sweat.

• #25 Cystic Fibrosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1001602-overview

  Cystic fibrosis is an autosomal recessive disease caused by defects in the CFTR gene, which encodes for a protein that functions as a chloride channel, and also regulates the flow of other ions across the apical surface of epithelial cells. In 1989, the CF locus was localized through linkage analysis to the long arm of human chromosome 7, band q31. […] Thus far, 1893 CFTR mutations have been identified. […] Half of affected individuals of northern European descent are homozygous for the F508 mutation, which is the deletion of a single phenylalanine residue at amino acid 508 of the CFTR gene (a class II defect). […] CFTR mutations result in abnormalities of cAMP-regulated chloride transport across epithelial cells on mucosal surfaces. The failure of chloride conductance by epithelial cells and associated water transport abnormalities result in viscid secretions in the respiratory tract, pancreas, GI tract, sweat glands, and other exocrine tissues. Increased viscosity of these secretions makes them difficult to clear.

• #26 Symptoms and Treatment of Cystic Fibrosis | Ausmed

  https://www.ausmed.com/learn/articles/cystic-fibrosis

  Cystic fibrosis (CF) occurs due to a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which is responsible for coding the CFTR protein (CFF 2021a). […] This mutation causes the CFTR protein – which is responsible for regulating the balance of salt and water on certain body surfaces (such as the lungs) – to behave abnormally. In some cases, the CFTR protein is not produced at all (CFF 2021a). […] A normal CFTR protein allows chloride (a salt component) to move from the inside of a cell to the outside, where it attracts water to the cellular surface. This water allows tiny hairs on the cellular surface (known as cilia) to sweep mucus away (CFF 2021a). […] However, a defective or absent CFTR protein causes the chloride to become trapped inside the cells, preventing water from hydrating the cellular surfaces. As a result, the mucus dehydrates and becomes thicker. Furthermore, the cilia are weighed down by this thick mucus and are unable to sweep it away, causing it to accumulate (CFF 2021a).

• #27 Cystic fibrosis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700

  Cystic fibrosis is a disorder that damages your lungs, digestive tract and other organs. It’s an inherited disease caused by a defective gene that can be passed from generation to generation. […] Simply put, cystic fibrosis is a gene defect. A defect to this gene changes how a salt moves in and out of cells, resulting in thick, sticky mucus in the respiratory, digestive and reproductive systems. It’s an inherited condition. A child needs to inherit one copy of the mutated gene from each parent to develop cystic fibrosis. […] In cystic fibrosis, a change in a gene causes problems with the protein that controls the movement of salt and water in and out of cells. This gene is the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It affects the cells that make mucus, sweat and digestive juices. When the CFTR protein doesn’t work as it should, the result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as extra salt in sweat.

• #28 Symptoms and Treatment of Cystic Fibrosis | Ausmed

  https://www.ausmed.com/learn/articles/cystic-fibrosis

  Cystic fibrosis (CF) occurs due to a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which is responsible for coding the CFTR protein (CFF 2021a). […] This mutation causes the CFTR protein – which is responsible for regulating the balance of salt and water on certain body surfaces (such as the lungs) – to behave abnormally. In some cases, the CFTR protein is not produced at all (CFF 2021a). […] A normal CFTR protein allows chloride (a salt component) to move from the inside of a cell to the outside, where it attracts water to the cellular surface. This water allows tiny hairs on the cellular surface (known as cilia) to sweep mucus away (CFF 2021a). […] However, a defective or absent CFTR protein causes the chloride to become trapped inside the cells, preventing water from hydrating the cellular surfaces. As a result, the mucus dehydrates and becomes thicker. Furthermore, the cilia are weighed down by this thick mucus and are unable to sweep it away, causing it to accumulate (CFF 2021a).

• #29 Symptoms and Treatment of Cystic Fibrosis | Ausmed

  https://www.ausmed.com/learn/articles/cystic-fibrosis

  Cystic fibrosis (CF) occurs due to a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which is responsible for coding the CFTR protein (CFF 2021a). […] This mutation causes the CFTR protein – which is responsible for regulating the balance of salt and water on certain body surfaces (such as the lungs) – to behave abnormally. In some cases, the CFTR protein is not produced at all (CFF 2021a). […] A normal CFTR protein allows chloride (a salt component) to move from the inside of a cell to the outside, where it attracts water to the cellular surface. This water allows tiny hairs on the cellular surface (known as cilia) to sweep mucus away (CFF 2021a). […] However, a defective or absent CFTR protein causes the chloride to become trapped inside the cells, preventing water from hydrating the cellular surfaces. As a result, the mucus dehydrates and becomes thicker. Furthermore, the cilia are weighed down by this thick mucus and are unable to sweep it away, causing it to accumulate (CFF 2021a).

• #30 Cystic Fibrosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1001602-overview

  Cystic fibrosis is an autosomal recessive disease caused by defects in the CFTR gene, which encodes for a protein that functions as a chloride channel, and also regulates the flow of other ions across the apical surface of epithelial cells. In 1989, the CF locus was localized through linkage analysis to the long arm of human chromosome 7, band q31. […] Thus far, 1893 CFTR mutations have been identified. […] Half of affected individuals of northern European descent are homozygous for the F508 mutation, which is the deletion of a single phenylalanine residue at amino acid 508 of the CFTR gene (a class II defect). […] CFTR mutations result in abnormalities of cAMP-regulated chloride transport across epithelial cells on mucosal surfaces. The failure of chloride conductance by epithelial cells and associated water transport abnormalities result in viscid secretions in the respiratory tract, pancreas, GI tract, sweat glands, and other exocrine tissues. Increased viscosity of these secretions makes them difficult to clear.

• #31 Cystic Fibrosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1001602-overview

  Cystic fibrosis is an autosomal recessive disease caused by defects in the CFTR gene, which encodes for a protein that functions as a chloride channel, and also regulates the flow of other ions across the apical surface of epithelial cells. In 1989, the CF locus was localized through linkage analysis to the long arm of human chromosome 7, band q31. […] Thus far, 1893 CFTR mutations have been identified. […] Half of affected individuals of northern European descent are homozygous for the F508 mutation, which is the deletion of a single phenylalanine residue at amino acid 508 of the CFTR gene (a class II defect). […] CFTR mutations result in abnormalities of cAMP-regulated chloride transport across epithelial cells on mucosal surfaces. The failure of chloride conductance by epithelial cells and associated water transport abnormalities result in viscid secretions in the respiratory tract, pancreas, GI tract, sweat glands, and other exocrine tissues. Increased viscosity of these secretions makes them difficult to clear.

• #32 What Causes Problems in Cystic Fibrosis? | Texas Children’s

  https://www.texaschildrens.org/content/conditions/what-causes-problems-cystic-fibrosis

  Scientists have found that abnormal CFTR protein makes a gate that does not work or works poorly. People with CF have this problem in a number of different cells in their bodies, including the cells in the sweat glands, lungs, pancreas, and intestine. The abnormal CFTR protein explains why people with CF have high chloride levels in their sweat (salty sweat). The high level of chloride in sweat has been known for a long time and is why the sweat test is used to help diagnose CF. […] Cells can have other problems that cause symptoms in CF, but the abnormal CFTR protein is considered the primary problem in CF. Researchers continue to try to understand more about how CF affects the body and the functions of its cells. In the future, as researchers find out more about what causes CF, their discoveries can help lead to new and better treatments.

• #33 The Cause and Impact of Cystic Fibrosis (CF) | CFSource

  https://www.cfsource.com/understanding-the-impact

  Cystic fibrosis (CF) feels a little different for everyone. But it all starts with a problem within the cells. Mutations found on both copies of a specific gene cause proteins throughout the body to be made incorrectly. This results in a buildup of thick, sticky mucus in the lungs and beyond, leading to inflammation and infections that can cause damage, even before it can be felt. […] A specific gene is responsible for CF. It’s called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene contains the instructions for producing CFTR proteins, which do an important job on the surface of certain cells throughout the body. […] But when someone has CF, a change (called a mutation) in each of the 2 copies of this gene results in CFTR proteins that aren’t able to do their job. Because of this, mucus, which is a slippery substance lining many different organs, gets too thick, causing infections and damage.

• #34 Cystic Fibrosis (CF) Causes: How CF Is Genetically InheritedShare to Facebookprint pageBookmark for latercaret iconFollow us on facebookFollow us on instagramFollow us on facebookFollow us on linkedincaret icon

  https://cystic-fibrosis.com/causes

  Cystic fibrosis (CF) is a genetically inherited disease that affects a protein in the body. This protein affects the body’s cells, tissues, and the glands that make mucus and sweat. […] People with cystic fibrosis received two copies of a recessive gene that causes mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This means that both their mother and father both carried at least one copy of the recessive CFTR gene. […] The CFTR gene is responsible for giving the body instructions on how to handle the CFTR protein, which is located in the exocrine system. The exocrine system includes every organ of the body that makes mucus, including the lungs, liver, pancreas, and intestines, as well as sweat glands. […] With cystic fibrosis, mutations in the CFTR gene cause the CFTR protein not to work properly, which leads to thick, sticky mucus that blocks the lungs and pancreas. The CFTR protein also impacts the liver, intestines and kidneys, the ears, nose and sinuses, sex organs, and the bones and joints. […] The Cystic Fibrosis Foundation estimates that there are more than 1,700 known mutations of the disease. This variation explains why some people with CF show few or no signs or symptoms, while others experience severe symptoms and life-threatening complications.

• #35 Cystic fibrosis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700

  Cystic fibrosis is a disorder that damages your lungs, digestive tract and other organs. It’s an inherited disease caused by a defective gene that can be passed from generation to generation. […] Simply put, cystic fibrosis is a gene defect. A defect to this gene changes how a salt moves in and out of cells, resulting in thick, sticky mucus in the respiratory, digestive and reproductive systems. It’s an inherited condition. A child needs to inherit one copy of the mutated gene from each parent to develop cystic fibrosis. […] In cystic fibrosis, a change in a gene causes problems with the protein that controls the movement of salt and water in and out of cells. This gene is the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It affects the cells that make mucus, sweat and digestive juices. When the CFTR protein doesn’t work as it should, the result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as extra salt in sweat.

• #36 Cystic Fibrosis: Causes, Diagnosis, and Treatment

  https://www.healthline.com/health/cystic-fibrosis

  Cystic fibrosis (CF) occurs as a result of a defect in whats called the cystic fibrosis transmembrane conductance regulator gene, or CFTR gene. This gene controls the movement of water and salt in and out of your bodys cells. […] A sudden mutation, or change, in the CFTR gene causes your mucus to become thicker and stickier than its supposed to be. […] This abnormal mucus increases the amount of salt in your sweat and builds up in various organs throughout the body, including the intestines, pancreas, liver, and lungs. […] Different defects can affect the CFTR gene. The type of defect is associated with the severity of CF. The damaged gene is passed on to the child from their parents. […] In order to have CF, a child must inherit one copy of the gene from each biological parent. If they only inherit a copy of the gene from one parent, they wont develop the disease. However, theyll be a carrier of the defective gene, which means they may pass the gene on to their own biological children.

• #37 Cystic Fibrosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1001602-overview

  Genotype-phenotype correlation demonstrates that F508 homozygosity nearly always confers a pancreatic exocrine insufficiency. Individuals with 1 or 2 copies of missense mutations (eg, R117H) tend to be pancreatic sufficient and have milder disease. […] The incidence of meconium ileus is higher in patients who are homozygous for F508 or who have F508 plus G542X. Conversely, not all patients with these genotypes have meconium ileus, so other non-CFTR factors must be involved in meconium ileus pathogenesis. […] The incomplete correlation of genotype with phenotype suggests either an environmental component of organ dysfunction or modifying genes that are only recently being characterized. […] The role of modifier genes is supported by the fact that neonates with cystic fibrosis who have intestinal obstruction most commonly have abnormalities in 2 or more CFTR modifier genes. In contrast, older children develop obstruction mostly as a result of environmental factors, such as introduction of pancreatic enzymes causing a stricture.

• #38 Cystic Fibrosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1001602-overview

  Genotype-phenotype correlation demonstrates that F508 homozygosity nearly always confers a pancreatic exocrine insufficiency. Individuals with 1 or 2 copies of missense mutations (eg, R117H) tend to be pancreatic sufficient and have milder disease. […] The incidence of meconium ileus is higher in patients who are homozygous for F508 or who have F508 plus G542X. Conversely, not all patients with these genotypes have meconium ileus, so other non-CFTR factors must be involved in meconium ileus pathogenesis. […] The incomplete correlation of genotype with phenotype suggests either an environmental component of organ dysfunction or modifying genes that are only recently being characterized. […] The role of modifier genes is supported by the fact that neonates with cystic fibrosis who have intestinal obstruction most commonly have abnormalities in 2 or more CFTR modifier genes. In contrast, older children develop obstruction mostly as a result of environmental factors, such as introduction of pancreatic enzymes causing a stricture.

• #39 Cystic Fibrosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1001602-overview

  Genotype-phenotype correlation demonstrates that F508 homozygosity nearly always confers a pancreatic exocrine insufficiency. Individuals with 1 or 2 copies of missense mutations (eg, R117H) tend to be pancreatic sufficient and have milder disease. […] The incidence of meconium ileus is higher in patients who are homozygous for F508 or who have F508 plus G542X. Conversely, not all patients with these genotypes have meconium ileus, so other non-CFTR factors must be involved in meconium ileus pathogenesis. […] The incomplete correlation of genotype with phenotype suggests either an environmental component of organ dysfunction or modifying genes that are only recently being characterized. […] The role of modifier genes is supported by the fact that neonates with cystic fibrosis who have intestinal obstruction most commonly have abnormalities in 2 or more CFTR modifier genes. In contrast, older children develop obstruction mostly as a result of environmental factors, such as introduction of pancreatic enzymes causing a stricture.

• #40 Cystic Fibrosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1001602-overview

  Genotype-phenotype correlation demonstrates that F508 homozygosity nearly always confers a pancreatic exocrine insufficiency. Individuals with 1 or 2 copies of missense mutations (eg, R117H) tend to be pancreatic sufficient and have milder disease. […] The incidence of meconium ileus is higher in patients who are homozygous for F508 or who have F508 plus G542X. Conversely, not all patients with these genotypes have meconium ileus, so other non-CFTR factors must be involved in meconium ileus pathogenesis. […] The incomplete correlation of genotype with phenotype suggests either an environmental component of organ dysfunction or modifying genes that are only recently being characterized. […] The role of modifier genes is supported by the fact that neonates with cystic fibrosis who have intestinal obstruction most commonly have abnormalities in 2 or more CFTR modifier genes. In contrast, older children develop obstruction mostly as a result of environmental factors, such as introduction of pancreatic enzymes causing a stricture.

• #41 Cystic fibrosis: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/cystic-fibrosis/

  Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body’s organs. […] Mutations in the CFTR gene cause cystic fibrosis. The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. […] Mutations in the CFTR gene disrupt the function of the chloride channels, preventing them from regulating the flow of chloride ions and water across cell membranes. […] Other genetic and environmental factors likely influence the severity of the condition. For example, mutations in genes other than CFTR might help explain why some people with cystic fibrosis are more severely affected than others.

• #42 Cystic Fibrosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1001602-overview

  Studies in murine CF models have shown an increase in mast cells and neutrophils as part of the immune response. […] Additional genetic modifiers include a 129/Sv allelic contribution in mice that yields a milder inflammatory response in CF and is potentially linked to chromosomes 1, 9, and 10. The regulation of these genes and processes helps explain the range of phenotypic variability in similar genetic mutations.

• #43 Cystic Fibrosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1001602-overview

  Genotype-phenotype correlation demonstrates that F508 homozygosity nearly always confers a pancreatic exocrine insufficiency. Individuals with 1 or 2 copies of missense mutations (eg, R117H) tend to be pancreatic sufficient and have milder disease. […] The incidence of meconium ileus is higher in patients who are homozygous for F508 or who have F508 plus G542X. Conversely, not all patients with these genotypes have meconium ileus, so other non-CFTR factors must be involved in meconium ileus pathogenesis. […] The incomplete correlation of genotype with phenotype suggests either an environmental component of organ dysfunction or modifying genes that are only recently being characterized. […] The role of modifier genes is supported by the fact that neonates with cystic fibrosis who have intestinal obstruction most commonly have abnormalities in 2 or more CFTR modifier genes. In contrast, older children develop obstruction mostly as a result of environmental factors, such as introduction of pancreatic enzymes causing a stricture.

• #44 Cystic Fibrosis: Causes and Risk Factors

  https://www.verywellhealth.com/cystic-fibrosis-causes-risk-factors-998222

  Cystic fibrosis is an inheritable and life-threatening disorder that affects roughly 30,000 Americans and as many as 70,000 people worldwide. […] It is caused by a genetic defect in the cystic fibrosis transmembrane receptor (CFTR) gene, which creates the protein involved in the production of sweat, digestive fluids, and mucus. If there is a defect in this protein, it can lead to the abnormal accumulation of mucus in lungs, the blockage of digestive enzymes to the intestines, and other serious symptoms and complications. […] There are at least 1,700 or more known CFTR mutations. In order for you to have cystic fibrosis, you need to have inherited two copies of the CFTR mutation, one from each parent. […] Cystic fibrosis (CF) is an autosomal recessive disorder. This is the type of disease you can only inherit if both of your parents contribute a single copy of a recessive gene (in this case, the CFTR mutation). […] With regards to CF, you can inherit the disease if each of your parents is a carrier of the CFTR mutation. […] The only risk factor for getting CF is having two parents who carry abnormal CFTR genes.

• #45 Learn About Cystic Fibrosis | American Lung Association

  https://www.lung.org/lung-health-diseases/lung-disease-lookup/cystic-fibrosis/learn-about-cystic-fibrosis

  Cystic fibrosis is a genetic (inherited) condition that causes severe damage to the lungs, digestive system and other organs in the body. […] CF is an inherited disorder caused by having two abnormal copies of the CF gene. You cannot catch or acquire CF. […] The only risk factor for getting CF is having two parents who carry abnormal CF genes and pass the abnormal gene on to their child. The child must inherit a CFTR gene with a mutation from each parent in order to have CF.

• #46 Cystic Fibrosis Symptoms & Treatment | Children’s Pittsburgh

  https://www.chp.edu/our-services/transplant/liver/education/liver-disease-states/cystic-fibrosis

  Cystic fibrosis (CF) is an inherited (genetic) condition found in children that affects the way salt and water move in and out of cells. […] The greatest risk factor for cystic fibrosis is a family history of the disease, especially if either parent is a known carrier. The gene that causes cystic fibrosis is recessive. This means that in order to have cystic fibrosis, children must inherit two copies of the gene, one from each parent. […] Parents who carry the cystic fibrosis gene are often healthy and have no symptoms of disease, and yet are still likely to pass it on to their children. […] If both parents carry a defective cystic fibrosis gene, each pregnancy has a 25 percent chance of producing a child with cystic fibrosis. […] The cystic fibrosis gene is most common in Caucasians of northern European descent. […] Although parents often blame themselves when a child is born with cystic fibrosis, it’s important to remember that nothing a parent does causes this disease.

• #47 Cystic Fibrosis: Causes, Symptoms & Treatment | Tampa General Hospital

  https://www.tgh.org/institutes-and-services/conditions/cystic-fibrosis

  Cystic fibrosis is passed from parent to child through the cystic fibrosis transmembrane regulator (CFTR) gene. People who suffer from the condition inherit one faulty gene from each parent. Parents do not need to have cystic fibrosis in order to pass the condition to their child. […] An individual may be at greater risk for having cystic fibrosis depending on his or her family history and ethnicity.

• #48 Cystic Fibrosis Symptoms & Treatment | Children’s Pittsburgh

  https://www.chp.edu/our-services/transplant/liver/education/liver-disease-states/cystic-fibrosis

  Cystic fibrosis (CF) is an inherited (genetic) condition found in children that affects the way salt and water move in and out of cells. […] The greatest risk factor for cystic fibrosis is a family history of the disease, especially if either parent is a known carrier. The gene that causes cystic fibrosis is recessive. This means that in order to have cystic fibrosis, children must inherit two copies of the gene, one from each parent. […] Parents who carry the cystic fibrosis gene are often healthy and have no symptoms of disease, and yet are still likely to pass it on to their children. […] If both parents carry a defective cystic fibrosis gene, each pregnancy has a 25 percent chance of producing a child with cystic fibrosis. […] The cystic fibrosis gene is most common in Caucasians of northern European descent. […] Although parents often blame themselves when a child is born with cystic fibrosis, it’s important to remember that nothing a parent does causes this disease.

• #49 Cystic Fibrosis: Causes, Symptoms and Treatment | Live Science

  https://www.livescience.com/cystic-fibrosis.html

  Cystic fibrosis is a genetic disorder that causes mucus-producing organs to malfunction and produce abnormally thick, sticky mucus. […] The cause of cystic fibrosis is genetics, because a person needs to inherit a copy of a defective gene from both parents to develop the condition, Fracchia said. […] People with cystic fibrosis have a mutation in both copies of the CFTR gene (one copy inherited from each parent). […] The defective CFTR gene produces a faulty protein that affects the movement of chloride a component of salt, or sodium chloride across cell membranes, according to the Cystic Fibrosis Foundation. […] The CFTR gene is most common in white people of Northern European descent, but other ethnic populations can also develop the disease.

• #50 Cystic Fibrosis – Society of Pediatric Psychology

  https://pedpsych.org/fact_sheets/cystic_fibrosis/

  Cystic fibrosis (CF) is a progressive, genetic disease that is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. […] A child inherits one copy of the defective CF gene from each of their biological parents. […] Cystic fibrosis is diagnosed less frequently in other ethnic groups, e.g., 1 in 31,000 Asian Americans, and 1 in 17,000 African Americans.

• #51 Cystic fibrosis | NHS inform

  https://www.nhsinform.scot/illnesses-and-conditions/lungs-and-airways/cystic-fibrosis/

  Cystic fibrosis is caused by a faulty gene that a child inherits from both their parents. […] The faulty gene means that some cells struggle to move salt and water across the cell wall. This, along with recurrent infections, can result in a build-up of thick, sticky mucus in the body’s tubes and passageways particularly the lungs and digestive system. […] To be born with cystic fibrosis, a child has to inherit two copies of this faulty gene one from each of their parents. […] If both parents carry the faulty gene, there’s a 25% chance that each child they have will be born with cystic fibrosis. […] The condition is present from birth and cannot be caught from someone else who has it.

• #52

  https://www2.hse.ie/conditions/cystic-fibrosis/

  Cystic fibrosis is caused by a faulty gene passed through families. […] It affects the movement of salt and water in and out of cells in the body. This can cause a build-up of thick, sticky mucus in the body’s tubes and passageways. This usually happens in the lungs and digestive system. […] A person with cystic fibrosis is born with the condition. It’s not possible to catch cystic fibrosis from someone else who has it.

• #53 Cystic fibrosis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700

  Cystic fibrosis is a disorder that damages your lungs, digestive tract and other organs. It’s an inherited disease caused by a defective gene that can be passed from generation to generation. […] Simply put, cystic fibrosis is a gene defect. A defect to this gene changes how a salt moves in and out of cells, resulting in thick, sticky mucus in the respiratory, digestive and reproductive systems. It’s an inherited condition. A child needs to inherit one copy of the mutated gene from each parent to develop cystic fibrosis. […] In cystic fibrosis, a change in a gene causes problems with the protein that controls the movement of salt and water in and out of cells. This gene is the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It affects the cells that make mucus, sweat and digestive juices. When the CFTR protein doesn’t work as it should, the result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as extra salt in sweat.

• #54 About Cystic Fibrosis | Cystic Fibrosis Foundation

  https://www.cff.org/intro-cf/about-cystic-fibrosis

  Cystic fibrosis is a progressive, genetic disease that affects the lungs, pancreas, and other organs. […] In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. […] Cystic fibrosis is a genetic disease. People with CF have inherited two copies of the defective CF gene one copy from each parent. […] The defective CF gene contains a slight abnormality called a mutation. There are more than 1,700 known mutations of the disease. […] The Foundation is challenging potential collaborators to submit proposals that will accelerate the pace of progress in CF drug discovery and development and intends to allocate $500 million to the effort through 2025. The Path to a Cure centers around two core strategies to address the underlying cause of CF: restoring CFTR protein when none exists and fixing or replacing the underlying genetic mutation to address the root cause of CF.

• #55 Cystic fibrosis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700

  To have cystic fibrosis, children must get one copy of the changed CFTR gene from each parent. If children get only one copy, they won’t develop CF. But they will be carriers and could pass the changed gene to their own children. People who are carriers may have no symptoms of CF or a few mild symptoms.

• #56 Cystic fibrosis: Symptoms, treatments, causes, and diagnosis

  https://www.medicalnewstoday.com/articles/147960

  If a person has only one copy of the malfunctioning gene, they do not develop CF but they carry it. For a person to develop CF, both biological parents must carry the malfunctioning gene. […] According to the National Organization for Rare Disorders, if two carriers have a child, there is a: 25% chance with each pregnancy that the child will have CF, 50% chance with each pregnancy that the child will be a carrier but will not have it, 25% chance that the child will not be a carrier and will not have CF.

• #57 Cystic Fibrosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1001602-overview

  Genotype-phenotype correlation demonstrates that F508 homozygosity nearly always confers a pancreatic exocrine insufficiency. Individuals with 1 or 2 copies of missense mutations (eg, R117H) tend to be pancreatic sufficient and have milder disease. […] The incidence of meconium ileus is higher in patients who are homozygous for F508 or who have F508 plus G542X. Conversely, not all patients with these genotypes have meconium ileus, so other non-CFTR factors must be involved in meconium ileus pathogenesis. […] The incomplete correlation of genotype with phenotype suggests either an environmental component of organ dysfunction or modifying genes that are only recently being characterized. […] The role of modifier genes is supported by the fact that neonates with cystic fibrosis who have intestinal obstruction most commonly have abnormalities in 2 or more CFTR modifier genes. In contrast, older children develop obstruction mostly as a result of environmental factors, such as introduction of pancreatic enzymes causing a stricture.

• #58 Cystic Fibrosis Causes | Cystic Fibrosis News TodayEnvelope icon

  https://cysticfibrosisnewstoday.com/cystic-fibrosis-causes/

  Cystic fibrosis (CF) is caused by mutations in the gene CFTR. More than 2,000 different mutations in this gene have been reported. In all cases, mutations impair the function of the CFTR protein, which results in the production of the thick, sticky mucus that is mainly responsible for symptoms of CF.

• #59 About Cystic Fibrosis | Cystic Fibrosis Foundation

  https://www.cff.org/intro-cf/about-cystic-fibrosis

  Cystic fibrosis is a progressive, genetic disease that affects the lungs, pancreas, and other organs. […] In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. […] Cystic fibrosis is a genetic disease. People with CF have inherited two copies of the defective CF gene one copy from each parent. […] The defective CF gene contains a slight abnormality called a mutation. There are more than 1,700 known mutations of the disease. […] The Foundation is challenging potential collaborators to submit proposals that will accelerate the pace of progress in CF drug discovery and development and intends to allocate $500 million to the effort through 2025. The Path to a Cure centers around two core strategies to address the underlying cause of CF: restoring CFTR protein when none exists and fixing or replacing the underlying genetic mutation to address the root cause of CF.

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