Myostatin - related muscle hypertrophy (Myostatin-related muscle hypertrophy) - Gen MSTN


The myostatin-related muscle hypertrophy is a rare disease characterized by a reduction in body fat and increased muscle mass. Affected individuals have up to twice the usual amount of muscle mass. They also tend to have greater muscle strength. The myostatin-related muscle hypertrophy is not known to cause clinical symptoms, and affected individuals are intellectually normal.

This process is due to alterations in the gene sequence MSTN (myostatin), located on the long arm of chromosome 2 (2q32.2), encoding the myostatin protein. This protein superfamily of transforming growth factor beta (TGF), a group of proteins that help control the growth and development of tissues throughout the body. Myostatin is found almost exclusively in skeletal muscle, where he is active both before and after birth. This protein normally limits muscle growth, ensuring that the muscles do not grow excessively. It is assessed administration of myostatin as a potential treatment for various muscular dystrophies causing weakness and atrophy.

It has identified at least one mutation in the gene MSTN responsible for muscle hypertrophy related to myostatin. This mutation, IVS1 + 5G> A, alters the way in which myostatin is coded. As a result, the cells synthesize little or no functional myostatin. A loss of this protein in muscle cells resulting in an overgrowth of muscle tissue. This genetic alteration does not seem to cause other health problems in affected individuals.

This process has an autosomal dominant pattern of inheritance incomplete. People with a mutation in both copies of the gene in every cell MSTN (homozygous) have a significant increase in strength and muscle mass. People with a mutation in one copy of the gene in every cell MSTN (heterozygotes) also show an increase in muscle mass, but to a lesser extent.

Tests in IVAMI: in IVAMI perform detection of mutations associated with muscle hypertrophy related to myostatin, by complete PCR amplification of exons MSTN gene, and subsequent sequencing.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).