Myostatin-related muscle hypertrophy

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Myostatin-related muscle hypertrophy
SymptomsDecreased body fat, increased muscle mass
Causesmutations in the MSTN gene

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.

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. 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.

Human-induced myostatin-related muscle hypertrophy[edit]

Researchers at Guangzhou Institutes of Biomedicine and Health in China have edited the genome of beagles to create double the amount of muscle.[3] Of the two beagles that were genetically modified, only one had increased muscle mass.[4] The ultimate aim of this project is to be able to better treat a genetic neuromuscular disease (Parkinson's disease).

Besides beagles, genetic modification has also been done in pigs[5] and fish.[6][7]

See also[edit]


  1. ^ "Super Strong Kids May Hold Genetic Secrets". ABC News. Retrieved 2020-05-18.
  2. ^ Amthor H, Macharia R, Navarrete R, Schuelke M, Brown SC, Otto A, et al. (February 2007). "Lack of myostatin results in excessive muscle growth but impaired force generation". Proceedings of the National Academy of Sciences of the United States of America. 104 (6): 1835–40. Bibcode:2007PNAS..104.1835A. doi:10.1073/pnas.0604893104. PMC 1794294. PMID 17267614. S2CID 16773360.
  3. ^ Loria K (21 October 2015). "Scientists created the first genetically engineered dogs — and they are bizarrely muscular". Business Insider.
  4. ^ Zou Q, Wang X, Liu Y, Ouyang Z, Long H, Wei S, et al. (December 2015). "Generation of gene-target dogs using CRISPR/Cas9 system". Journal of Molecular Cell Biology. 7 (6): 580–3. doi:10.1093/jmcb/mjv061. PMID 26459633.
  5. ^ Cyranoski D (July 2015). "Super-muscly pigs created by small genetic tweak". Nature. 523 (7558): 13–4. Bibcode:2015Natur.523...13C. doi:10.1038/523013a. PMID 26135425. S2CID 4447239.
  6. ^ Yeh YC, Kinoshita M, Ng TH, Chang YH, Maekawa S, Chiang YA, et al. (September 2017). "Using CRISPR/Cas9-mediated gene editing to further explore growth and trade-off effects in myostatin-mutated F4 medaka (Oryzias latipes)". Scientific Reports. 7 (1): 11435. Bibcode:2017NatSR...711435Y. doi:10.1038/s41598-017-09966-9. PMC 5595883. PMID 28900124.
  7. ^ Zhong Z, Niu P, Wang M, Huang G, Xu S, Sun Y, et al. (March 2016). "Targeted disruption of sp7 and myostatin with CRISPR-Cas9 results in severe bone defects and more muscular cells in common carp". Scientific Reports. 6 (1): 22953. Bibcode:2016NatSR...622953Z. doi:10.1038/srep22953. PMC 4791634. PMID 26976234. S2CID 9192986.

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