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​Jolene Tengbeh

​Professor Ryder

​Human Genetics

​07 June 2025

​Cystic Fibrosis

​Cystic Fibrosis is a genetic disease that causes mucus to become thick and build up in

the lungs, pancreas, and other organs. While in the lungs, this thickened mucus blocks the

airways, creating lung damage and making it hard to breathe. CF is most common in white

people but can still influence individuals of all races and ethnic backgrounds, but sadly this can

lead to a late diagnosis. According to the American Lung Association (2024), there are 40,000

people living with CF in the United States and over 1000,000 people worldwide.

​Cystic fibrosis is an inherited autosomal recessive gene. This means that a person must

inherit two defective copies of the CFTR gene to develop the disease. If the person only inherited

one mutated copy of the gene, then this person is a carrier and usually does not present any

symptoms (American Lung Association [ALA], 2024)

​People who have CF suffer from Cystic Fibrosis Transmembrane Conductance Regulator

gene mutation or CFTR for short. This causes the CFTR protein to stop working. This can affect

the cells of the body that produce mucus and sweat. CFTR protein is in every organ of the body

that can make mucus, including the lungs, liver, pancreas, intestines, and sweat glands. It is also

known to be present in other cells of the body. When CFTR protein stops working properly,
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thick, sticky mucus is produced that causes blocking and traps germs, which leads to infections

(Powell, 2003).

​In the lungs, the thick mucus can block the airway. The mucus creates an environment for

bacteria to grow, causing infections and further inflammation. This damage to the airway and the

lung tissues can lead to respiratory failure. Because of the strain on the body, people with CF are

likely to develop bronchitis, bronchiectasis, pneumonia, hemoptysis, nasal polyps, and a

collapsed lung (Orenstein, 2004).

​The CFTR protein is important when maintaining the equal balance between salt and

water intake on the upper part of the lungs. The protein softens the movement of chloride ions

out of cells by working as a chloride channel. This process is necessary because it stops water

from entering the intestines, sweat glands, pancreas, and lungs in the wrong way. Water follows

the chloride ions as they leave the cell, keeping the mucus slick and thin so the body can easily

remove it (Genetic Science Learning Center, 2025).

​The CFTR protein must work properly in healthy people to prevent mucus buildup. This

process is important for getting rid of bacteria in the lungs and making sure the digestive

enzymes get to the intestines to get food in the digestive system (Powell, 2003).

​The structure of the protein is altered by mutations in the CFTR gene, which also has

distinct functions. The protein in the 508 mutations is twisted during cell grouping and cannot

reach the cell surface to carry out its function. Other mutations can reduce the number of CFTR

proteins, shorten their lifespan, or cause the chloride channel to function inappropriately (NIH,

2011).
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​People with CF must go through a lot of treatments to help manage their symptoms.

Traditional treatments include Insulin, Intravenous antibiotics, Pancreatic enzymes, oral

antibiotics, Nebulized antibiotics, clinic visits, Nebulized bronchodilators, DNase, exercise, oral

steroids, Physiotherapy, inhaled bronchodilators, medication for thin bones, inhaled steroids,

Vitamins, High fat diet, Dietary supplements, and overnight feeding (Leatte, 2009).

​In the last few years, there have been new treatments called CFTR controllers. These

drugs help the CFTR protein work better. Trikafta is an example of this. The medicine is a

combination of three drugs that helps people with the most common CF mutation, which is

Elexacaftor, Tezacaftor, and Ivacaftor. It helps CF patients to breathe better and stay out of the

hospital a lot more for breathing treatments, especially Trikafta because it targets certain CFTR

protein defects, including the F508del mutation (ALA, 2024).

​Even though there's medication and therapy around to help CF, not everyone can afford

it, so Paul McCray, who is a professor of pediatrics and microbiology, and immunology, is

working with Dr. David Liu on newer versions of gene editing technologies. Prime editing

allows any letter in the genetic code to be replaced, even with sections of the code as long as a

couple of hundred letters. Though researchers are moving at rapid speed to improve these editing

technologies, problems with using them on a patient are on hold (NIH,2024).

​Cystic fibrosis is a very serious inherited disease that has a clear genetic cause. It can

affect multiple systems in the body and requires daily treatments and medications to stay away

from the hospital and survive. While there is still no cure, medical breakthroughs are trying to

help people with CF live longer and healthier lives. ​

Works Cited

1. Orenstein, D.M (2004). Cystic fibrosis: A guide for patient and family (3rd ed.).

Lippincott Williams and Wilkins

[Link]

2. Genetic Science Learning Center. (2025). What is cystic fibrosis?

[Link]

3. Powell, J. (2003). Explaining cystic fibrosis. Cherrytree Books

[Link]

4. National Institutes of Health. (2024). A Cystic Fibrosis cure for all? Gene

editing shows promise

[Link]

romise

5. Mayo Clinic. (2024). Cystic Fibrosis

[Link]

syc-20353700

6. Urbas, R. (Ed.). (2009). Cystic fibrosis: Etiology, diagnosis and treatments. Nova

Biomedical Books.

[Link]
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7. American Lung Association.(2024) Learn about Cystic fibrosis

[Link]

8. Bell, S. C., and Ratijen, F. (2023). Cystic fibrosis: A review. JAMA, 329(21) 1887-1896

[Link]

9. National Institutes of Health. (2011). The F508 Mutation Causes CFTR Misprocessing

and Cystic fibrosis-Like Disease in Pigs. Processing of the National Academy of Sciences, 108

36, 15326-15331.

[Link]