Friday, November 25, 2011

Rare Genetic Mutation, Pro or Con?




Protein plays a very important role in the human body. Protein is most commonly known for building muscle. While there are many types of proteins in the body that have their own specific responsibilities. Myostatin or growth differentiation factor 8, GDF8, is just another protein in the human body, its responsibility however is to inhibit the growth and definition of muscle. In a very rare genetic mutation called myostatin-related muscle hypertrophy, a person is born with low myostatin causing little fat and strong muscles. Myostatin was discovered in 1997 by researchers and scientists. They found this protein in many animals the most common tested were mice and the Belgian blue cattle. It was not known to be in humans until the birth of a German baby. There was a baby born in Germany in 1999 with this myostatin deficiency. He was born with low levels of myostatin causing his muscles to be twice as strong as the other kids around him. Another exam ple was a child born in Michigan, Liam Hoekstra. He was born with normal levels of myostatin but they were not reacting properly. With the myostatin not reacting like it should, it caused him to have super strength. Liam was able to stand on day two with support and could do a pull up at 8 months. With these recent findings it means so much for the future in the development for treatments of muscle wasting diseases. Muscular dystrophy is the weakening and loss of muscle tissue, this disease effects nearly 100,000 people every year. With no known cures for the disease there could be. If scientists can recreate a drug that has the same effects as the rare myostatin-related muscle hypertrophy then we might have the first cure for muscular dystrophy. A drug of this kind would be able to slow down the loss of muscle tissue and possibly even reverse it and grow the muscle tissue back. Although if they can figure out a way to take out any horrible side effects then there is room for abuse of the drug. If a drug like this is invented athletes would be all over it trying to make it a performance enhancer. Some companies have already started. Biotest, Cytodyne, and Pinnacle are three companies all in the sport supplements field, already working and spending a lot of time and money to create a myostatin neutralizer. This find in genetic mutation can have its ups and downs, but hopefully the pros will out way the cons.








8 comments:

  1. This was a really interesting post. I had no idea that this condition existed. I hope that they can use the condition for research, and that athletes will not take advantage of any helpful medication developed out of this research. Is there any negative effects to this disorder, like shorter life span?

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  2. I am glad you addressed the issue of athletes possibly taking advantage of a drug if it were developed. If this were to happen would there be any way for doctors to test for the drug since essentially it is stopping a natural chemical in the body? Also, if this condition becomes more common do you think those diagnosed will be restricted from athletic competitions?

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  3. Thats true this will just be another thing athletes will look to use before it gets banned. Good thing we play sports fairly in good old america huh haha

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  4. I've never heard of this mutation before and found it almost unbelievable that a two day old infant could stand with support! I think it would be awesome if a cure could be found for MS. Hopefully athletes wouldn't abuse the drug so people who truly need it can take advantage of it.

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  5. I thought this story was really interesting especially the part about the 3 year old boy. I hope they find a way to use the drug for good use. I am sure even if the athletes abuse it they will be able to test if someone has taken such a supplement, and then they will no longer be able to play, like they do with steroids.

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  6. The only effect to the disorder is it strengthens and builds all muscles, this including the heart because it too is a muscle. A very large heart can have troubles pumping out the right amount of blood the body needs. If it cannot it will cause heart failure. The child, Liam, is perfectly fine as of right now but as he grows doctors will have to keep a close eye on him. Here is a link to explain enlarged hearts if you wanted to learn more. http://www.livestrong.com/article/75402-risks-enlarged-heart/

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  7. If there was a treatment developed im sure that doctors would be able to test by looking at the amount of myostatin in the body. Although the lack of myostatin builds muscles it also weekens tendons. So if someone was to take a treatment that was an athlete they would build muscle but their tendons wouldnt. The bigger the muscle is the bigger the tendon needs to be to support the muscle. With big muscles and small tendons a person can be at high risck for injury. Here is another study that explains the findings.http://www.youtube.com/watch?v=XpvzPydFZC8&feature=results_main&playnext=1&list=PLC95BBA08339BCFBB Also if more people were born with this mutation i would think they would be allowed to be involved in sports. This condition is very rare and there has only been around 100 cases world wide so until it becomes more common i do not think there will be any regulations about it.

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  8. This is very interesting but are there any serious long term side effects from this?

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