Question Details

The protein whose production gets affected in Duchenne muscular dystrophy is

Options

A

Actin

B

Dystrophin

C

Myotropin

D

Leucovorin

Correct Answer :

Dystrophin

Solution :

The correct option is Dystrophin.

Duchenne muscular dystrophy (DMD) is a severe, progressive, X-linked genetic disorder characterized by muscle degeneration and weakness.
The disease is caused by mutations in the DMD gene, which is located on the X chromosome and is responsible for encoding the protein called dystrophin.

Dystrophin is an essential structural protein found primarily in skeletal and cardiac muscles. It acts as a critical link, connecting the internal cytoskeleton (specifically actin filaments) of each muscle fiber to the surrounding extracellular matrix via the dystrophin-associated glycoprotein complex.
This linkage stabilizes the sarcolemma (the cell membrane of the muscle fiber) during muscle contraction and relaxation, preventing physical damage to the cell.

In individuals with Duchenne muscular dystrophy, mutations (such as large deletions or duplications) in the gene lead to a complete or near-complete absence of functional dystrophin. Without this protective protein, the cell membranes of muscle fibers become fragile and prone to tearing under normal mechanical stress.
This leads to calcium influx, cellular damage, chronic inflammation, and eventual replacement of muscle tissue with fibrotic tissue and fat, resulting in muscle wasting and weakness.

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