Myostatin-related muscle hypertrophy
Medical condition / From Wikipedia, the free encyclopedia
Myostatin-related muscle hypertrophy is a rare genetic condition characterized by reduced body fat and increased skeletal muscle size.[1] Affected individuals have up to twice the usual amount of muscle mass in their bodies, but increases in muscle strength are not usually congruent.[2] Myostatin-related muscle hypertrophy is not known to cause medical problems, and affected individuals are intellectually normal. The prevalence of this condition is unknown.
This article includes a list of general references, but it lacks sufficient corresponding inline citations. (February 2014) |
Myostatin-related muscle hypertrophy | |
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Symptoms | Decreased body fat, increased muscle mass |
Causes | mutations in the MSTN gene |
Mutations in the MSTN gene cause myostatin-related muscle hypertrophy. The MSTN gene provides instructions for making a protein called myostatin, which is active in muscles used for movement (skeletal muscles) both before and after birth. In a much reviewed [3] academic research paper published in 2010 by the Journal of Musculoskeletal & Neuronal Interactions, Myostatin was proved to be the key factor linking muscle mass and bone structure.[4] This protein normally restrains muscle growth, ensuring that muscles do not grow too large. Mutations that reduce the production of functional myostatin lead to an overgrowth of muscle tissue. Myostatin-related muscle hypertrophy has a pattern of inheritance known as incomplete autosomal dominance. People with a mutation in both copies of the gene in each cell (homozygotes) have significantly increased muscle mass. People with a mutation in one copy of the MSTN gene in each cell (heterozygotes) also have increased muscle bulk but to a lesser degree.
The effect of this growth factor was first described in cattle as “bovine muscular hypertrophy” by the British farmer H. Culley in 1807. Cattle that have a myostatin gene deletion look unusually and excessively muscular.