Genetic Mutations and Their Role in Cystic Fibrosis
Mutations have been a critical factor in developing our genetic makeup throughout history. Not all mutations, though, are advantageous. In reality, specific mutations can be harmful and result in serious health problems.
One such instance is the genetic abnormality that causes cystic fibrosis (MedlinePlus, 2021). People with this condition have issues with breathing and correctly digesting meals since it affects their lungs and digestive systems. The mutation results in a buildup of thick mucus in the lungs, frequently becoming infected and inflammatory, eventually causing chronic lung damage.
The CFTR Gene and Its Function in the Body
The genetic disease known as cystic fibrosis (CF) affects the reproductive, digestive, and respiratory systems. A mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which codes for a protein that controls the flow of salt and water into and out of cells, causes the condition. The CFTR gene on chromosome 7 generates a protein that regulates chloride ion channels in cells (MedlinePlus, 2021). The appropriate hydration of biological tissues depends on the presence of chloride ions. Due to gene mutations, the CFTR protein is either absent or performs incorrectly in CF patients. As a result, the cells lining many organs, such as the reproductive system, liver, intestines, lungs, and pancreas, are affected.
The Delta F508 Mutation and Other Variants
The delta F508 mutation is the most prevalent one connected to CF. About 70% of CF cases globally are caused by this mutation (MedlinePlus, 2021). Three nucleotides (the components of DNA) are deleted from the CFTR gene, resulting in Delta F508 (MedlinePlus, 2021). Due to this deletion, the protein chain lacks the amino acid phenylalanine. Without this amino acid, the CFTR protein cannot fold into its standard shape or perform its intended function.
Other mutations associated with CF include G542X, G551D, R117H, and W1282X, among others. These mutations affect different regions of the CFTR protein and can result in varying degrees of disease severity. The effects of cystic fibrosis vary depending on which organs are affected by mucus buildup caused by improper salt and water balance due to faulty chloride channel regulation by mutated proteins produced from genes with these mutations.
Impact of Cystic Fibrosis on the Lungs and Digestive System
Chronic infections that produce inflammation can lead to lung damage, respiratory failure, and finally death in those with cystic fibrosis who have lung involvement. Malnutrition and nutritional malabsorption can develop from mucus buildup in the digestive system, obstructing the pancreatic ducts (MedlinePlus, 2021). In addition to adult weight loss, it may stunt children’s growth. Additionally, diabetes linked to CF might result from pancreatic dysfunction.
Reproductive Challenges and Current Treatment Options
Males with CF are frequently infertile due to a blockage of the vas deferens, which transports sperm from the testicles. Women with CF may also have decreased fertility due to thick cervical mucus that makes it harder for sperm to reach the egg. Cystic fibrosis is now incurable (MedlinePlus, 2021). However, medicines can aid with symptom management and life quality enhancement. These include nutritional assistance, pancreatic enzyme replacement treatment, bronchodilators for airway blockage, antibiotics for infections, and nutritional support.
Reference
Medlineplus. (2021). Cystic fibrosis. Medlineplus.gov. Web.