Cystic fibrosis is a genetic disorder where mutated alleles (point or gene mutations) produce a defective...

Cystic fibrosis is a genetic disorder where mutated alleles (point or gene mutations) produce a defective transport protein that results in organs producing a sticky mucus. Discuss how an individual with cystic fibrosis would make the abnormal protein. Your answer should include all the molecules and all the processes involved in going from genotype to phenotype.

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Cystic fibrosis is a life-threatening recessively inherited disorder in which a person suffers from single or multiple mutations which prevent him/her to perform normal pulmonary physiological functions and hence, pathological implications related to lungs are often developed.

Molecular biology of cystic fibrosis states that a single or multiple mutation in the cystic fibrosis gene called CFTR take place either randomly or by inheritance from parents. The normal protein generated by this gene is responsible for generation of a trans-membranous channel protein which is involved in not only transport of fluids and materials across the pulmonary lining cells and sweat glands, but also acts as a channelization medium between the cellular environment and the outer environment. The primary function of this channel proetin is the facilitate the efflux of chloride ions from the cells, thus maintaining not only ionic balance but also maintaining tonicity of the cells. In the case of failure of doing so, the cells experience variation from homeostasis and thus pathology due to excessive entrappment of chloride ions. Consequently, the deviation in electrochemical gradeint further disturbs the ionic gradient in the epidermal layers thus causing pathological symptoms.

Thus, failure of development of this channel protein due to mutated CFTR gene leads to development of impairments related to accumulation of excessive cellular waste products such as sweat and mucus. This causes accumulation of thick mucus in the lungs thus preventing gaseous exchange across the pulmonary vascular bed.

In this way, a point mutation/multiple mutations lead to a potentially life-threatening disease in individuals which demands immediate medical attention.

gladiator answered 1 year ago

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Cystic fibrosis is a genetic disorder where mutated alleles (point or gene mutations) produce a defective...

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