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CRISPR Basics. leighhendersongithubio. https://leighhenderson.github.io/CRISPR_basics/.

Cystic Fibrosis Foundation. 2022. About Cystic Fibrosis. wwwcfforg. https://www.cff.org/intro-cf/about-cystic-fibrosis.

John Hopkins. 2019. CFTR - Johns Hopkins Cystic Fibrosis Center. Johns Hopkins Cystic Fibrosis Center. https://hopkinscf.org/knowledge/cftr/.

Liou TG. 2019. The Clinical Biology of Cystic Fibrosis Transmembrane Regulator Protein. Chest. 155(3):605–616. doi:10.1016/j.chest.2018.10.006. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6414788/.

Medline Plus. 2020 Aug 18. CFTR gene: MedlinePlus Genetics. medlineplusgov. https://medlineplus.gov/genetics/gene/cftr/#conditions.

National Center for Biotechnology Information. 2014. Chromosome Map. Nihgov. https://www.ncbi.nlm.nih.gov/books/NBK22266/.

Research Into Mucus | Cystic Fibrosis Foundation. 2022. wwwcfforg. https://www.cff.org/research-clinical-trials/research-mucus.

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Change in Proteins Function leads to Symptoms:

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Change in Proteins Function leads to Symptoms:

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CFTR protein adjusts the levels of acidity in secretions that, along with fluid and chloride abnormalities, lead to some of the common manifestations of the CF clinical syndrome such as small airway disease and pancreatic insufficiency.

Consequences of CFTR protein dysfunction are well known in the lung, but may occur elsewhere.

CFTR dysfunction can affect areas of the bran and lead to:

Circadian rhythm

Insomnia/Sleep disorders

Mood and affect disorders

Abnormal energy metabolism, growth, and reproduction.

(Liou 2019)

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Normal sequence = DNA coding strand
F508 in green = DNA template strand

F508del mutation = DNA coding stand and DNA template strand after deletion of the three nucleotides from each strand shown in green

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There have been thousands of different mutations reported on the CFTR gene in people with cystic fibrosis (Medicine Plus 2020). The most common deletion among cystic fibrosis patients is the delta F508 deletion. This is a deletion of the amino acid, phenylalanine 508. When this mutation occurs, the deletion disrupts the function of gates and channels, specifically transmembrane channels and sodium ion channels. The sodium ion channels are important for the lungs and pancreas to function normally. The CFTR gene provides instructions for proteins called CFTR that acts as a channel for cells that make sweat, saliva, mucus, digestive enzymes, and tears (Medicine Plus 2020). In cystic fibrosis patients, dehydrated mucus gets built up and stuck in the lungs (Research Into Mucus 2022). In a person with a normal CFTR gene, chlorine ions are transported throughout cells lining the lungs, allowing the chlorine to attract fluids that are imperative to hydrate the cells. When a mutated CFTR gene is exposed in the body, the chlorine is trapped inside the cell, which leaves the cells dehydrated and makes the mucus thick and stick to the lining of the lungs. This causes infections and excessive mucus production in the lungs, which leads to causing trouble with breathing, lung illness susceptibility increases, and persistent coughing (Research Into Mucus 2022).

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Salty-tasting skin

Persistent coughing, at times with phlegm

Frequent lung infections including pneumonia or bronchitis

Wheezing or shortness of breath

Frequent greasy, bulky stools or difficulty with bowel movements

Nasal polyps

Chronic sinus infections

(Cystic Fibrosis Foundation 2022)

Abnormal secretions in the male reproductive tract lead to congenital absence of sperm ducts and sterility; similar secretions in the female fallopian tube impair passage of ova and sperm, reducing fertility.

Increased frequency of kidney stones

(Liou 2019)

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CFTR is an chloride ion channel

CFTR protein transports chloride and bicarbonate and regulates other ion channels.

Sodium, potassium, other chloride and calcium channels

It interacts with other membrane proteins to maintain epithelial tight-junctions and barriers to fluid flow.

CFTR participates in transport of sphingosine-1 phosphate protein, a regulator of cell adhesion and a signaling molecule for inflammation.

It helps maintain antioxidant defenses by transporting glutathione and accounts for 45% of glutathione efflux from human bronchial epithelial cells.

Maintains adequate internal acidification of several types of intracellular organelles, thus maintaining their normal functions for a wide variety of intracellular processes.

(Liou 2019)

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(National Center for Biotechnology Information 2014)

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The mutation occurs on the CFTR gene, which is located on the q arm at point 31.2 of chromosome 7 (Johns Hopkins 2019).

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Name of Gene: CFTR Gene

CFTR protein consists of a 1480 amino acid chain.

(Liou 2019)