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I am not completely familiar with biology, but i had a genetics course in college along with practicals. Forgive me if there is something wrong with my question.

Is there a genetic disease which results in partially functioning or complete non functioning of genes resulting in little or no production of protein for eg Muscular dystrophy.

so why can't we supply these protein from outside the way we do in the case of diabetes(insulin)?

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1 Answer 1

There are many protein deficiency issues caused by genetic mutation for eg: Protein C whose deficiency causes abnormal blood clots. This protein is controlled by the PROC gene whose mutation causes Type I Protein C deficiency (reference).

There are treatments of replacing proteins like in the case of Protein C deficiency, protein C concentrates are used (reference). In the case of Alpha-1-antitrypsin (AAT) deficiency, augmentation is done with weekly intravenous infusion of the AAT protein (reference).

So in many cases protein is actually supplied from outside the body and also many protein deficiency conditions can actually be controlled with balanced diets (reference) which unfortunately is not a solution for insulin deficiency.

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thanks but what is the problem in case of say muscular dystrophy where patient is almost rendered with no cure or improvement at all? –  AMIT S Singh Jul 9 at 9:16

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