Question

Cystic Fibrosis Transmembrane conductance Regulator (CFTR) is an ABC transporter that allows passage of chloride ions across the plasma membranes of epithelial cells. Mutations in the gene for CSTR cause a decrease in fluid and salt secretion by CFTR and result in cystic fibrosis. In 70% cases of the disease, the mutation is a deletion of a Phe residue at position 508. The mutant protein folds incorrectly, which interferes with its insertion in the plasma membrane, and as a consequence, the movement of chloride ions across the membranes is impaired. Malfunctioning CFTR results in blocked and heavy secretion from the exocrine glands (pancreas, sweat glands, bile ducts and vase deferens). Cystic fibrosis patients produce dehydrated mucus that accumulates in the lungs and leads to chronic infections that damage the lungs. Respiratory failure is commonly the cause of death in people with cystic fibrosis.

In this discussion, explain a genetic disease that you have investigated upon. Describe the genetic defect [specifically which protein is involved] and how it affects the body’s metabolism and physiology. (PLEASE TYPE 250-300 WORDS & INCLUDE 1 - 2 SOURCES, NO DIAGRAMS)

Answer 1

In this discussion, we have discussed about the genetic disease that is known as cystic fibrosis. This disease is caused by a mutation in a gene called as CFTR that is stand for Cystic Fibrosis Transmembrane conductance Regulator (chloride channel). Mutation in CFTR that codes for ABC transporter protein that resulted a reduction in fluid and salt secretion by CFTR. Mutation is reported in the phenylalanine residue at position number in 508 in protein chain of CFTR. When this protein get mutated, it is resulted in imbalance of concentration ion across biological membrane. Hence, secretion from exocrine gland viz bile duct, pancreas increases. Patients of this disease (cystic fibrosis)

Produce mucus that is dehydrated and collects in the lungs. Abnormal mucus accumulation leads to damage of lungs by causing chronic infections.

Sources: research paper published in journal of cystic fibrosis, in the year 2002 and research paper from Nature journal