MUTATION IN ΔF508 : A MAJOR CAUSE OF CYSTIC FIBROSIS

Abstract

Cystic fibrosis is the most common serious inherited disorder or autosomal recessive disorder. This disorder is appearing when the CFTR [cystic fibrosis transmembrane conductance regulator] gene mutation is takes place. The CFTR gene is responsible for the formation of CFTR protein which is normally required for the regulation of sweat, mucus and some other body fluids, CFTR protein  act as a channel which is helping to transport chloride from inner membrane space to outer membrane space, it also help to transport some other material like bicarbonate ions. The CFTR protein is present in apical membrane. When this protein is not synthesized properly because of mutation in CFTR gene, the regulation of sweat, mucus and some other body fluids is imbalanced; this condition is known as cystic fibrosis. The most common mutation is deletion of phenylalanine amino acid at position 508.Deletion of amino acid is done by delta F508 mutation, 70% of cystic fibrosis is caused due to this mutation. Sign and symptoms are cough with thick mucus, lung infections. Lungs are the most prone area for infection. Cystic fibrosis have no cure permanently but the symptoms can be reduced by therapies and medications.