Which molecules might be involved when thinking about people with Duchenne muscular dystrophy?

Which molecules might be involved when thinking about people with Duchenne muscular dystrophy?

GALGT2 is involved in adding sugar molecules to a protein called alpha-dystroglycan, which is part of a cluster of proteins located at the muscle-fiber membrane. This cluster is abnormal in DMD muscle.

What mutation causes muscular dystrophy?

Mutations in the DMD gene cause the Duchenne and Becker forms of muscular dystrophy. The DMD gene provides instructions for making a protein called dystrophin . This protein is located primarily in skeletal and cardiac muscle, where it helps stabilize and protect muscle fibers.

What is the difference between Duchenne and Becker muscular dystrophy?

Both Duchenne and Becker muscular dystrophy are caused by mutations in a protein called dystrophin. In Duchenne muscular dystrophy, functioning dystrophin is completely absent in muscle, while in Becker muscular dystrophy, there is some dystrophin present, although not enough for completely normal muscle function.

What is the mechanism of Duchenne muscular dystrophy?

Duchenne muscular dystrophy (DMD) cannot be explained by a single mechanism. Muscle tissue is specialized for contraction and forms the basis of body movement, ventilation and pumping blood. Contractile activity also generates substantial mechanical stress that, if not properly managed, will damage muscle.

Why do boys get more DMD than girls?

Duchenne MD affects boys more often than girls because the dystrophin gene is on the X chromosome. Boys have only one X chromosome and girls have two. So girls can almost always make working dystrophin using the dystrophin gene on their second X chromosome.

Is DMD a deletion mutation?

Duchenne muscular dystrophy is an inherited muscle wasting disease with severe symptoms and onset in early childhood. Duchenne muscular dystrophy is caused by loss-of-function mutations, most commonly deletions, within the DMD gene.