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Myostatin- Related Muscle Hypertrophy

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by

Hannah Purdy

on 12 April 2013

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Transcript of Myostatin- Related Muscle Hypertrophy

Myostatin - Related Muscle Hypertrophy by Hannah Purdy What is MRMH? Myostatin - Related Muscle Hypertrophy (or MRMH), is a rare genetic condition in which an affected individual has increased strength and muscle mass. This mutation, found on the MSTN gene, causes a protein called Myostatin, to not be produced at a normal rate, therefore causing the skeletal muscles to grow at an abnormally fast rate. Inheritance MRMH has a pattern of inheritance that is called incomplete autosomal dominance. This means that both copies of the MSTN gene have an incomplete dominance but the mutation is not located on a sex chromosome. Symptoms Increased muscle mass
Increased strength
High energy
High metabolism
Constantly hungry Reported Cases At the moment, there are only 100 documented cases of MRMH in the world. The most recent one, a 6 year old boy by the name of Liam Hoekstra, was covered extensively by the media when he was a toddler since the condition is so rare. Liam was often referred to as "The World's Strongest Toddler". Health Risks & Treatment There are no health risks associated with MRMH. Although this condition causes the muscles to grow at an abnormally fast rate, it only affects the skeletal muscles. This means that the smooth and cardiac muscles will remain unaffected and there would be no further complications from the disorder. Also, there is no treatment for MRMH. There is nothing really bad about the condition that would require treatment. In fact, doctors are trying to use this genetic mutation to help treat muscular dystrophy. Bibliography Genetic Home Reference. Myostatin Related Muscle Hypertrophy. http://ghr.nlm.nih.gov/condition/myostatin-related-muscle-hypertrophy/ (accessed May 15, 2012).

Lauren Cox. Super Strong Kids May Hold Genetic Secrets. http://abcnews.go.com/Health/MedicineCuttingEdge/story?id=7231487&page=1 (accessed May 17, 2012).

Kathryn R. Wagner, MD, PhD. Myostatin Related Muscle Hypertrophy. http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=10238 (accessed May 17, 2012).

Genetics Home Reference. MSTN. http://ghr.nlm.nih.gov/gene/MSTN (accessed June 1, 2012). The MSTN gene is located on the long (q) arm of chromosome 2 at position 32.2.
To be exact, the MSTN gene is located from base pair 190,920,425 to base pair 190,927,454 on chromosome 2. Location Liam Hoekstra, age 3- 2009
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