New Human Mutation

There seems to be a 4 year old that is displaying adult musculature, or at least muscle mass that is well above normal. It turns out that he has a mutation in the gene for myostatin, a protein that shuts off muscle growth. The article can be found hereThis message has been edited by Loudmouth, 06-25-2004 03:47 PM

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I also wonder if he is really the first person to have this mutation. From the article it appears his mother and father both have a copy of the mutated gene; he has two copies. It's possible he's not unique (which goes back to my media hype question), even the article refers to the mutation as 'rare,' not unique.

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The article claims that this is the first DOCUMENTED case. There very well could have been other people with this disease. It would make an interesting population study if the family is from an area that tends to marry within the community. Being that both the mother and father carry the mutation seems to point in that direction. Either that, or the mutation is widespread by very rare, hence the first time there has been a homozygous mutant (ick, couldn't think of a better way to phrase it, go X-Men).What is also curious is that you only need one copy of the myostatin protein to prevent the condition. Also, I didn't mean to propose that this could be a beneficial mutation, only that one mutation can make quite drastic changes to body morphology, although arguably a developmental change in this case.

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Population study would be very interesting. I wonder if the mutation is dominant?

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Mutations are not dominant or recessive, alleles are. In this case, it seems to be a recessive allele in that it requires a homozygous recessive to have the full blown syndrome.

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Why mess with HGH when you can change the genes themselves.

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Actually, you wouldn't have to mess with the genome for short term effects. All you would have to do is one of three things:1. Produce a chemical that destroys endogenous myostatin.2. Produce a chemical that binds to myostatin and prevents it from being effective within muscle.3. Produce a chemical that binds to myostatin receptors without causing the down-regulation of muscle growth.Once you have the protein it isn't always necessary to change the DNA sequence.Also, if the babie's uncles have above average muscle growth it could mean that low levels of myostatin could cause excessive muscle growth. Complete absence may not be needed.

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Interesting. Do you know if this would work if an adult began taking this type of chemical? Or does it only work at a certain point in the organism's development?

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I would think that adult muscle development and pre-adolescent muscle development are under the control of myostatin. That is, you can add muscle mass throughout your life barring illness. So yes, I think something like this would probably work. However, I haven't researched myostatin very closely but I do believe that it is a protein which would make it difficult to create a protease that selectively destroyed myostatin but left the rest of the proteins in the human body unaltered. The best bet would be a small biomolecule that bound the active site of myostatin or to its receptor without triggering conformational changes in the receptor.

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In the old days, this kid would probably have mate with every woman in town and have no competition at all, since he could beat the living crap out of all his competitors.

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But he would be at a disadvantage if he was unable to run fast enough or far enough to kill game. Even though he could "beat up the competition" he still wouldn't be able to feed his family. Although, he could start stealing . . . many strategies exist. However, there seems to be cardiac problems in connection with larger muscle mass which might end up putting this mutation in the detrimental column.