Dystrophin is a large protein found in skeletal and cardiac muscles that is part of a complex group of proteins known as the dystrophin glycoprotein complex. Mutations in the dystrophin gene can lead to Duchenne or Becker muscular dystrophy, which cause heart disease and progressive wasting of skeletal muscles. Mutations in other costamere proteins can also cause muscle damage and other forms of muscular dystrophy.
Dystrophin is a large protein required for muscles to function properly. When it is damaged or absent, people suffer from muscular dystrophy. Those who lack any functional dystrophin protein suffer from Duchenne muscular dystrophy. Individuals with a mutated but semifunctional protein have less severe Becker muscular dystrophy.
Dystrophin protein is found in skeletal and cardiac muscles. It is part of a highly complex group of proteins that keep muscle fibers strong. Some of these proteins contain sugars and are known as glycoproteins. They are referred to as the dystrophin glycoprotein complex. Associated with them are a number of other proteins that form a complex known as a costamere.
The cytoskeleton is the backbone of the cell and the costamere forms a critical connection between the cytoskeleton and the connective tissue outside the cell. In addition to keeping muscle fibers strong, it protects the muscles as they contract and relax. Without this group of proteins, and especially dystrophin, muscles cannot regenerate. Over time, they are gradually damaged and die.
As of early 2010, the dystrophin gene (DMD) is the largest known human gene. It can have hundreds of different mutations, which can lead to Duchenne or Becker muscular dystrophy. This complex of diseases is characterized by heart disease and progressive wasting of skeletal muscles used for movement. This often leaves its victims in wheelchairs and can cause early death. There is now a genetic test to identify carriers of a defective gene, which is one of the most common genetic diseases.
In addition to heart disease associated with muscular dystrophy, there is additional heart disease associated with mutations in the DMD gene. It is known as X-linked dilated cardiomyopathy. It enlarges and weakens the heart muscle without affecting the skeletal muscle and can be caused by a form of dystrophin specific to the heart muscle.
There are many different types of dystrophin. In addition to those in skeletal muscle and the heart, some are found in nerve cells in the brain. Less is known of its function there. This shape is thought to be necessary for communication between nerve cells. There is a hypothesis that it may be involved in the development of mental retardation.
Mutations in many of the other costamere proteins can also cause cumulative muscle damage. This can lead to the development of other forms of muscular dystrophy. Because the regulation of muscle contraction is exquisitely balanced, there are many areas where a defect can lead to a pathological condition.
Protect your devices with Threat Protection by NordVPN
