Cystic Fibrosis: A Genetic Analysis
Cystic fibrosis is an inherited condition which occurs when the gene that prevents the lungs and digestive system being clogged with mucus is faulty. This is due to a chloride channel being unable to function as it should and open when there is an increase in the intracellular level of cyclic AMP. This could be due to an associated regulatory protein being unable to undergo phosphorylation.
The CFTR gene creates proteins that regulate the level of chloride and sodium in normal cells. When there is a mutation in the CFTR gene, it is not able to function properly leading to a build-up of abnormally thick mucus in the body’s passages.
CFTR acts as a chloride channel pumping chlorine ions out of the cell and is responsible for regulating the other
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