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Genetics Home Reference: your guide to understanding genetic conditions
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MSTN

Reviewed December 2008

What is the official name of the MSTN gene?

The official name of this gene is “myostatin.”

MSTN is the gene's official symbol. The MSTN gene is also known by other names, listed below.

What is the normal function of the MSTN gene?

The MSTN gene provides instructions for making a protein called myostatin. This protein is part of the transforming growth factor beta (TGFβ) superfamily, which is a group of proteins that help control the growth and development of tissues throughout the body. Myostatin is found almost exclusively in muscles used for movement (skeletal muscles), where it is active both before and after birth. This protein normally restrains muscle growth, ensuring that muscles do not grow too large. Myostatin has been studied extensively in mice, cows, and other animals, and it appears to have a similar function in humans.

Researchers are studying myostatin as a potential treatment for various muscular dystrophies that cause muscle weakness and wasting (atrophy).

How are changes in the MSTN gene related to health conditions?

myostatin-related muscle hypertrophy - caused by mutations in the MSTN gene

At least one mutation in the MSTN gene has been found to cause myostatin-related muscle hypertrophy, a rare condition characterized by increased muscle mass and strength. The mutation, which is written as IVS1+5G>A, disrupts the way the gene's instructions are used to make myostatin. As a result, cells produce little or no functional myostatin. A loss of this protein in muscle cells leads to an overgrowth of muscle tissue. It does not appear to cause any other medical problems in affected individuals.

Where is the MSTN gene located?

Cytogenetic Location: 2q32.2

Molecular Location on chromosome 2: base pairs 190,055,699 to 190,062,728

The MSTN gene is located on the long (q) arm of chromosome 2 at position 32.2.

The MSTN gene is located on the long (q) arm of chromosome 2 at position 32.2.

More precisely, the MSTN gene is located from base pair 190,055,699 to base pair 190,062,728 on chromosome 2.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about MSTN?

You and your healthcare professional may find the following resources about MSTN helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the MSTN gene or gene products?

  • GDF8
  • GDF-8
  • GDF8_HUMAN
  • growth differentiation factor 8

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding MSTN?

atrophy ; differentiation ; gene ; growth factor ; hypertrophy ; muscle cells ; mutation ; protein ; tissue ; wasting

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Bradley L, Yaworsky PJ, Walsh FS. Myostatin as a therapeutic target for musculoskeletal disease. Cell Mol Life Sci. 2008 Jul;65(14):2119-24. doi: 10.1007/s00018-008-8077-3. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18425412?dopt=Abstract)
  • Carnac G, Ricaud S, Vernus B, Bonnieu A. Myostatin: biology and clinical relevance. Mini Rev Med Chem. 2006 Jul;6(7):765-70. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16842126?dopt=Abstract)
  • Kollias HD, McDermott JC. Transforming growth factor-beta and myostatin signaling in skeletal muscle. J Appl Physiol (1985). 2008 Mar;104(3):579-87. Epub 2007 Nov 21. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18032576?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2660)
  • Rodgers BD, Garikipati DK. Clinical, agricultural, and evolutionary biology of myostatin: a comparative review. Endocr Rev. 2008 Aug;29(5):513-34. doi: 10.1210/er.2008-0003. Epub 2008 Jun 30. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18591260?dopt=Abstract)
  • Schuelke M, Wagner KR, Stolz LE, Hübner C, Riebel T, Kömen W, Braun T, Tobin JF, Lee SJ. Myostatin mutation associated with gross muscle hypertrophy in a child. N Engl J Med. 2004 Jun 24;350(26):2682-8. (http://www.ncbi.nlm.nih.gov/pubmed/15215484?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: December 2008
Published: July 28, 2014