Introduction
Before we can go in depth regarding the issue to be explored, we must first understand what Muscle Hypertrophy Syndrome is. The Genetics Home Reference website defines it as follows, “Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. Myostatin-related muscle hypertrophy is not known to cause any medical problems, and affected individuals are intellectually normal.” (Myostatin-related muscle hypertrophy).
The source of the disorder within the body is in the MSTN gene (Myostatin Gene). The Genetics Home Reference website states that, “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-related muscle hypertrophy).
What causes the disorder? There are numerous mutations and natural alterations in the DNA that can cause a myostatin disorder to occur within an individual. At least one mutation in the MSTN gene has been found to cause myostatin-related muscle hypertrophy. The mutation, which is written as IVS1+5G>A, disrupts the way the gene's instructions are used to make myostatin. This terminates the signal sent to produce the protein thus halting the protein synthesis of the Myostatin protein. As a result, cells produce little or no functional myostatin (Myostatin-related muscle hypertrophy). A loss of this protein in muscle cells leads to an overgrowth of muscle tissue and the drastic increase of muscle mass we see in individuals expressing the Myostatin disorder.
The source of the disorder within the body is in the MSTN gene (Myostatin Gene). The Genetics Home Reference website states that, “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-related muscle hypertrophy).
What causes the disorder? There are numerous mutations and natural alterations in the DNA that can cause a myostatin disorder to occur within an individual. At least one mutation in the MSTN gene has been found to cause myostatin-related muscle hypertrophy. The mutation, which is written as IVS1+5G>A, disrupts the way the gene's instructions are used to make myostatin. This terminates the signal sent to produce the protein thus halting the protein synthesis of the Myostatin protein. As a result, cells produce little or no functional myostatin (Myostatin-related muscle hypertrophy). A loss of this protein in muscle cells leads to an overgrowth of muscle tissue and the drastic increase of muscle mass we see in individuals expressing the Myostatin disorder.
* The Yellow arrow indicates the location of the MTSN Gene where the mutation occurs
Myostatin has been studied extensively in mice, cows, and other animals, and it appears to have a similar function in humans. In a study conducted on lab mice, subjects were injected with myostatin inhibitors to see what effect it would have on the skeletal muscle mass of the mice. Mice injected with the myostatin inhibitor showed a 30-60 percent increase of muscle mass in comparison to mice not injected (Mimicking the Massively Muscular).
Myostatin has been studied extensively in mice, cows, and other animals, and it appears to have a similar function in humans. In a study conducted on lab mice, subjects were injected with myostatin inhibitors to see what effect it would have on the skeletal muscle mass of the mice. Mice injected with the myostatin inhibitor showed a 30-60 percent increase of muscle mass in comparison to mice not injected (Mimicking the Massively Muscular).
As you can see, in the first picture, the mouse on the right (the one injected with the myostatin inhibitors) was noticeably larger then the mouse on the left (not injected with myostatin inhibitors). Similar results have been expressed in dogs as well.