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Aiden Nguyen
Genetics UCSD
Cystic Fibrosis Facts Sheet
Introduction:
Cystic fibrosis (CF) is a genetic condition that shortens life, causes breathing problems and
affects the lung, digestive system, and other body organs. It emerges as a result of changes in one
gene, and the effect is extensive in the body. Persistent mucus collects in the tracts resulting in
lifelong infections in the lungs, difficulty breathing, and shorter life. CF is presented with
approximately 70,000 patients in the world and the majority of them are diagnosed during
childhood. With treatment, the survival is dramatic, and in the current scenario, a significant
number of patients living with CF are living to adulthood.
Molecular Basis and Genetics:
The mutations in the CFTR gene (which is
also called Cystic Fibrosis Transmembrane
Conductance Regulator) on chromosome 7
cause CF. The CFTR protein is a chloride
channel, which helps control the loss and
inward entry of salt and water in and out of
the cells. The most frequent of such
mutations, 508-delF, causes misfolded
protein being degraded prior to reaching the cell surface. In absence of functional CFTR, there is
impairment in the transport of chloride, and water resulting in formation of thick mucus. CF is an
autosomal recessive inherent disorder and, thus, a child has to inherit only one malfunctioning
copy of CFTR gene produced by each of the parents in order to be affected.
Diagnosis Signs and Symptoms:
- Continuous mucous coughing
- Incidence of repeated lung infections
- You can wheeze or dyspnea
- Inability to grow amidst normal appetite
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- Greasy stools that are bulky or even those that are unable to gain weight
The diagnosis is frequently recognized by
screening babies in the newborn period,
and then a sweat chloride test (quantifies
the level of salt sweated) or genetic
testing is used to detect CFTR mutations.
Diagnosis at this stage enables faster
correction, which may be much more
effective in the long-term perspective.
Prevention/ Treatment/ Public Health Factors:
It is presently uncured, but it is possible to treat CF to ease the symptoms and permit the disease
to progress more slowly. Among the common treatments include:
- The mucus loosening techniques of the airways
- Medications used via inhalation (mucolytics, antibiotics and bronchodilators)
- Enzyme supplements to supplement digestion by pancreatitis
- The purpose of using pancreatic enzyme supplements is to assist in digestion. Examples
such drugs are CFTR modulator drugs (ivacaftor, elexacaftor/tezacaftor/ivacaftor) which
increase the functionality of defective CFTR proteins
Early screening, genetic counseling, and availability of high-level therapies are the objects of
attention of the public health sphere. Controlling
infection should be a top priority in the clinics to
avoid cross-infection of patients.
Future and Technology:
There are research development efforts towards a
cure. The goal of gene therapies is to supply airway
cells with the right copy of the CFTR gene. The
CFTR gene can also be potentially fixed directly
using mRNA therapies and gene-editing technologies
such as CRISPR. New CFTR modulators are still enlarging the opportunities of treatment to
mutations that do not have a corresponding drug yet. New innovations keep increasing the life
expectancy of individuals with CF, and the prognosis shows that in the near future, CF may
become a manageable condition in the majority of patients.
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Works Cited
1. Cystic Fibrosis Foundation. “What Is Cystic Fibrosis?” Cystic Fibrosis Foundation,
2024, www.cff.org.
2. National Institutes of Health. “Cystic Fibrosis.” MedlinePlus, 2024,
medlineplus.gov/cysticfibrosis.html.
3. Ratjen, Friedrich, and Scott C. Bell. “Cystic Fibrosis.” The Lancet, vol. 403, no. 10385,
2024, pp. 1050–63, doi:10.1016/S0140-6736(24)00436-1.
4. World Health Organization. “Genetic Diseases: Cystic Fibrosis.” WHO, 2023,
www.who.int.
5. CFTR protein structure. A CFTR protein is composed of five domains—two... |
download scientific diagram.
(n.d.).https://www.researchgate.net/figure/CFTR-protein-structure-a-CFTR-protein-is-co
mposed-of-five-domains-two-membrane-spanning_fig4_308878765
6. Figure 1 a multi-study CF database spanning 1184 PWCF and 4171 sputum... (n.d.-b).
https://www.researchgate.net/figure/A-multi-study-CF-database-spanning-1184-pwCF-an
d-4171-sputum-samples-A-We-analyzed-36_fig1_391583052
7. The defect in cystic fibrosis. A mutation in the CFTR gene prevents cl... | download
scientific diagram. (n.d.-c).
https://www.researchgate.net/figure/The-defect-in-cystic-fibrosis-A-mutation-in-the-CFT
R-gene-prevents-Cl-being-secreted_fig1_267868385
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