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In humans, the MSTN gene is located on the long (q) arm of chromosome 2 at position 32.2. [5] Myostatin (also known as growth differentiation factor 8, abbreviated GDF8) is a protein that in humans is encoded by the MSTN gene. [6] Myostatin is a myokine that is produced and released by myocytes and acts on muscle cells to inhibit muscle growth. [7]
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. A 2010 research paper in the Journal of Musculoskeletal & Neuronal Interactions, which was discussed outside of academic circles, [ 3 ] linked Myostatin to muscle mass and bone ...
Another form of myostatin inhibition is gene therapy. [ 10 ] Another monoclonal antibody, bimagrumab , works as an antagonist of the ACVR2 and ACVR2B receptors, preventing myostatin and activin A from binding. [ 11 ]
Biochemical studies showed a phosphorylase activity just below normal range, with other activities being normal. Southern blot analysis revealed a deletion of exons 45 to 48 of dystrophin gene, which on Western blotting was shown to produce normal amounts of truncated dystrophin. [74] Hereditary myopathy with lactic acidosis (HML) (gene ISCU)
The MSTN gene also plays a big role in muscle development. It provides instructions for making a protein called myostatin. This protein transforming growth factor beta (TGFβ) superfamily, which is a group of proteins that help control the growth and development of tissues throughout the body.
Dr Emmeline Hill is an Irish horse geneticist who is credited with discovering a gene for speed in horses.. Dr Hill has published a paper in the peer-reviewed scientific journal PLoS ONE entitled "A sequence polymorphism in MSTN predicts sprinting ability and racing stamina in Thoroughbred horses", which describes the identification of the DNA sequence variant in the horse myostatin gene.
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Genetic analysis of Thoroughbreds suggests that the reason for Nearctic's success is that he carried a then-rare allele of a gene called MSTN, associated with muscle growth. The more common "T" allele of MSTN is associated with stamina while the rarer "C" allele that Nearctic carried is associated with speed and earlier development. [10]