Normal Function
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 limits 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).
Health Conditions Related to Genetic Changes
Myostatin-related muscle hypertrophy
At least one variant (also known as a 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 variant, 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.
More About This Health Condition
Other Names for This Gene
GDF-8 GDF8 GDF8_HUMAN growth differentiation factor 8
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. No abstract available. Citation on PubMed Carnac G, Ricaud S, Vernus B, Bonnieu A. Myostatin: biology and clinical relevance. Mini Rev Med Chem. 2006 Jul;6(7):765-70. doi: 10.2174/138955706777698642. Citation on PubMed Kollias HD, McDermott JC. Transforming growth factor-beta and myostatin signaling in skeletal muscle. J Appl Physiol (1985). 2008 Mar;104(3):579-87. doi: 10.1152/japplphysiol.01091.2007. Epub 2007 Nov 21. Citation on PubMed 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. Citation on PubMed or Free article on PubMed Central Schuelke M, Wagner KR, Stolz LE, Hubner C, Riebel T, Komen 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. doi: 10.1056/NEJMoa040933. No abstract available. Citation on PubMed