Cystic fibrosis is genetic disorder. It is an inherited disorder that can result in a severe damage to the respiratory and digestive systems. This disorder can affect the lungs, pancreas, intestines, liver and even the sex organs. Cystic fibrosis builds up a thick and sticky mucus in the lungs and other respiratory and digestive organs in our body. For an infant to be at risk of developing Cystic Fibrosis, both parents must pass on the abnormal gene to the infant. Cystic fibrosis is caused by mutations in cystic fibrosis transmembrane regulator (CFTR) gene. This specific gene is located on chromosome 7. Patients with Cystic fibrosis cannot make sufficient CFTR gene or produce abnormal form of a CFTR gene.
CFTR …show more content…
Genetics of Cystic fibrosis
Cystic fibrosis is a genetic disorder caused by mutations in the CFTR gene. CFTR gene is located on human chromosome 7. An infant must inherit 2 copies of a defective Cystic fibrosis (CF) gene (one copy from each parent) for the infant to be able to have the disease. If the infant inherit only one copy will be considered as CF carrier and will not have the disease.
CFTR is a glycoprotein and consist of 1480 amino acids. Its main function is to regulate the channel for the movement of chloride ions in and out of cells, which is essential for the salt and water balance on organs such as in the lungs or pancreas. Changes in the CFTR gene (mutation) can affect the structure of the CFTR protein. Mutations in the CFTR gene can be grouped into 5 main classes. Classes I, II and III mutations can be considered severe. Class IV and V mutations can be considered as mild. Cystic fibrosis is in the blanket of class II CFTR mutations, which is the deletion of ΔF508 (A phenylalanine amino acid). Delta F508 (ΔF508) is a deletion of one amino acid at position 508 in the CFTR gene. …show more content…
ΔF508 mutation is the most common among CFTR gene mutations. The CFTR gene is responsible for creating a channel that transports chloride ions into and out of cells. Sodium and chloride (the components of salt) aid transport water (sweat) to skin surface through ducts and then reabsorbed into the body. In patients with cystic fibrosis, the salt reabsorption process is abnormal because CFTR, which is the main transportation of chloride is defective. Abnormal reabsorption of chloride by the sweat glands of cystic fibrosis patient can cause excessive salt content in their sweat. This can lead to symptoms such as dehydration, weakness, fever, stomach pain, vomiting, fatigue, and