After complaining about something stupid in my local paper, I find something cool.
(AP) Mutation Found in ‘Muscle Man’ Toddler
This is a AP report on a discovery reported recently in the NEJM. Apparently, a German boy was born with a pair of genetic mutations that block myostatin production. Myostatin is a negative control on muscle growth. Thus this child who is not yet five has adult level strength. Since I haven’t had time to grab the actual report, I assume that the actual mutations are loss of function mutation. Instead of “blocking” the action of myostatin as report indications, these mutations probably cause myostatin production to be broken. But, like I said I haven’t read the paper.
Some interesting sections from the AP report.
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This seems to indicate that the concentration of myostatin an important part of its activity. An immediate impact on human evolution is to potentially explain the difference in strength between humans and our relatives. One obvious hypothesis is that chimps produce less myostatin than humans, thus causing them to have higher muscle mass. I also would not be surprised if testosterone somehow represses myostatin, which would explain how the hormone promotes muscle mass.
The actual paper is:
References
- Schuelke M et al. (2004) Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child. NEJM 350:2682-2688.
