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What is a Myostatin Deficiency?

By V. Saxena
Updated Mar 03, 2024
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Myostatin deficiency refers to an abnormal growth condition in which myostatin, the protein responsible for controlling muscle growth, is either missing from the body or has been deactivated. Without fully functioning myostatin proteins in the body, muscles are free to grow without restriction. This, therefore, leads to a state of muscular hypertrophy, in which the muscles of the body grow to an abnormal size.

A gene called MSTN controls myostatin production and activation. Each cell in the body has two instances of this gene. As little as one mutation in one instance of the gene can cause myostatin deficiency by disrupting the way in which the body produces or uses myostatin. If both instances of the MSTN gene in each cell are mutated, then the muscular hypertrophy is typically more severe.

The mutations in the MSTN gene can lead to myostatin deficiency in one of two ways. In some instances, the instructions concerning the production of myostatin become equally mutated or corrupted, leading cells in the body to either produce little or no myostatin at all. Other times, the instructions regarding the proper use of myostatin become corrupted. In this instance, there may be plenty of myostatin proteins available within the cells, but they merely sit idly by because they have not been instructed by the body to do anything.

At of 2010, there was no clinical treatment for myostatin deficiency. Case studies on animals such as mice and cattle have revealed that the muscle growth that results from a lack of myostatin never exceeds 40 percent. Myostatin functions the same in humans as it does in animals, so myostatin deficiency isn’t fatal. Only a very minute portion of the popular suffers from myostatin deficiency. This includes babies and a select few professional bodybuilders.

Though myostatin deficiency is an unwanted condition by itself, researchers hope to use the science behind it to one day cure muscular dystrophy. By injecting into the body substances that block myostatin, the hope is that the weakened muscles of muscular dystrophy will grow to their normal size. There is, however, a concern that such a solution could inevitably cause the disease to worsen in the future.

At the same time, the idea of using myostatin blockers to promote muscle growth in bodybuilders has also been considered. Any such possibility would, however, require intense testing by the FDA before being released into the mainstream market. It also could face regulation by the governing bodies of the competitive bodybuilding industry.

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Discussion Comments
By anon1002788 — On Feb 16, 2020

Everyone in my family has this mutation. My brother is walking unassisted a week after a knee replacement with no pain. I never work out, but I have the muscle definition of a cyclist due to having stairs in my home. When I actually was cycling, I shot up from 200 lbs to over 350lbs due to the amount of muscle I put on.

By anon288348 — On Aug 29, 2012

No, not true. I have this deficiency. I have had it from birth. I work out, but before, I would still grow without working out. There is no limit to my growth.

By turquoise — On Jul 10, 2011

Using myostatin blockers to cure various growth disorders is fine. But there is no way that athletics are going to be allowed to use it.

I know that research is still continuing on this but I imagine that one day they are going to come up with a way to manipulate myostatin protein to increase or decrease muscle growth.

Even then, this cannot be used by athletics because it is not natural. There would be no difference between mysotatin blockers and steroids. I realize that people who are born with a myostatin deficiency do sometimes become professional sports players. I don't know how fair that is for sports, but I definitely wouldn't want it to be available for all sports players.

By SteamLouis — On Jul 10, 2011

Even if someone has myostatin deficiency, if they want to build muscle, they still have to exercise right?

I can't imagine that the muscles would keep growing on their own. As far as I understand, someone with myostatin deficiency would still need to workout, the difference is that they build muscle faster than someone who doesn't have the deficiency.

If that's right, I agree that myostatin blockers could be a great thing for body builders. For instance, they could reach the same muscle mass with half the effort than before.

By burcidi — On Jul 09, 2011

There was a story about an extremely strong toddler on TV last week. He had myostatin deficiency and this child could lift weights and do moves that professional athletes can barely do.

His family said that he is taken to the doctor regularly for checkups but that's about it. Unless it leads to other problems, I guess this isn't really a condition that calls for treatment, not that it could be treated anyway.

The funny part is, after this show aired, lots of parents started commenting online about how their children had the exact same characteristics as this toddler. Their sons and daughters are in their twenties now and they were just realizing that they may have myostatin deficiency!

I guess it's pretty easy to overlook symptoms of this deficiency which might mean that it is under-reported.

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