What is cystic fibrosis? How does cystic fibrosis work to enhance survival for heterozygous individuals?

Expert Solution

ANSWER :

▪︎CYSTIC FIBROSIS :

Cystic fibrosis is a progressive , autosomal recessive , inherited genetic disorder caused due to mutation in the CFTR (Cystic fibrosis transmembrane conductance regulator) gene.

▪︎To manifest cystic fibrosis 2 copies of mutated genes should be present. People with single copy of mutated gene are carriers.

▪︎CFTR gene mutation ------> inhibits movement of salt (chloride) to the cell surface -------> prevents water from getting moved to the cell surface -----> thick and sticky mucous formation in various organs of respiratory(lungs), reproductive and digestivel(pancreas) systems.

Lungs ----> blocks the airways ----> lung infections, respiratory failure etc
Pancreas -----> decrease in digestive enzymes secretion ---> malabsorption---> malnutrition and growth retardation.

▪︎Heterozygous individuals are carriers of cystic fibrosis. Lifespan of carriers and normal population is same but the carriers have increased risk of getting cystic fibrosis related conditions like lung infections , bronchiectasis etc

▪︎Heterozygous cystic fibrosis people have certain advantages :

They are resistant or protective to diseases like cholera, typhoid , tuberculosis and diarrhea.

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