Dystrophin

Dystrophin is a rod-shaped protein that is crucial for the stability and protection of muscle fibers. Mutations in the dystrophin gene can lead to muscular dystrophy, a group of genetic diseases characterized by progressive weakness and loss of muscle mass.

Structure

Dystrophin is one of the largest proteins in the human body. It is composed of four major structural domains: the actin-binding N-terminal domain, the central rod domain, the cysteine-rich domain, and the C-terminal domain. The central rod domain is composed of 24 spectrin-like repeats, which are responsible for the protein's rod-like shape.

Function

Dystrophin is primarily located in the sarcolemma, the plasma membrane of muscle cells. It plays a crucial role in connecting the cytoskeleton of muscle fibers to the surrounding extracellular matrix through the cell membrane. This connection is vital for the stability and protection of muscle fibers during muscle contraction and relaxation.

Clinical significance

Mutations in the dystrophin gene can lead to various forms of muscular dystrophy, including Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). These diseases are characterized by progressive muscle weakness and loss of muscle mass due to the absence or dysfunction of dystrophin.

DMD is the most severe form of dystrophy caused by dystrophin mutations. It is characterized by rapid progression of muscle degeneration, leading to loss of ambulation and death in early adulthood. BMD is a milder form of dystrophy, with slower progression and longer life expectancy.

See also

• Muscular dystrophy
• Duchenne muscular dystrophy
• Becker muscular dystrophy
• Sarcolemma
• Cytoskeleton

References

Dystrophin Resources
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