What is dystrophin?

dystrophin is a large protein that is needed for the proper functioning of the muscles. When it is damaged or missing, people suffer from muscle dystrophy. Those who lack any functional protein of dystrophin suffer from Duchenne's muscle dystrophy. Individuals with mutated but semifunctional proteins have less serious Becker's muscle dystrophy.

dystrophin protein is found in skeletal and heart muscles. It is part of a highly complex protein group that maintains muscle fibers strong. Some of these proteins have sugars on them and are known as glycoproteins. They are referred to as dystrophin glycoprotein complex . They are associated with a number of other proteins that form a complex known as Costamere .

Cytoskeleton is the spine of the cell and the bone forms a critical connection between the cytoskeleton and connective tissue outside the cell. In addition to maintaining strong muscle fibers, muscles as a contract and relaxation protect. Without this group of proteins and especially dystrophin muscles cannot rege regeto disappear. Over time, they are gradually damaged and dying.

Since the beginning of 2010, the dystrophin gene (DMD) has been the largest, known human gene. It may have hundreds of different mutations, which can lead to Duchenne or Becker muscle dystrophy. This complex of the disease is characterized by heart disease and progressive waste of skeletal muscles that are used for movement. This often leaves its victims bound to wheelchair users and can cause premature death. Now there is a genetic test for identifying carriers of a defective gene, which is one of the more common genetic diseases.

In addition to a heart disease associated with muscle dystrophy, there is another DMD gene in the DMD gene, associated with mutations. It is known as x-bound dilated cardiomyopathy . It enlarges and weakens heart muscles without affecting the skeletal muscle and can be caused by dystrophin that is specific to the heart muscles.

There are many different types of dystrophin. In addition to those from skeletal muscles and hearts, some are found in the nerve cells in the brain. Less is known about his function. This form is believed to be communicated between nerve cells. There is a hypothesis that it could participate in the development of mental retardation.

mutations in many other bone proteins can also cause cumulative muscle damage. This can lead to the development of other forms of muscle dystrophy. Because the control of muscle contraction is perfectly balanced, there are many areas in which the defect can lead to a pathological state.