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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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2 Answers 2

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

You can fairly easily substitute peptides (short proteins) from the outside of the body, but you have to supply them by injection. They don't survive the low pH of the stomach unless you encapsulate them into an acid-resistant matrix. Short peptides are often very local and short acting, present only during specific times of the embryonic development (for example, morphokines). However, assuming that you have a peptide hormone like insulin, you can administer it systemically and it will work. There is however over 350 peptides/short protein that are extracellular and many of them are locally restricted. So, you should not just inject them. The problem with larger proteins is, that they do not cross the cell barrier like these small peptides (which have a receptor for crossing/uptake). Many of the broken genes carriers (patients) of genetic diseases have in their genome, are coding for large intracellular proteins, often even tissue-specifically expressed. You cannot get them easily to the right destination, nor can you get them easily into the cell. You have to use a virus that encodes them and infects the cell. Read some Cell / Molecular Biology textbook if you want to learn more details.

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