Which protein is defective in Becker muscular dystrophy?
The core concept here is the dystrophin protein. Duchenne is caused by the absence of dystrophin, while Becker has a defective or reduced amount of dystrophin. The gene responsible for dystrophin is located on the X chromosome. So the correct answer should be dystrophin.
Now, looking at the options. The correct answer is Dystrophin. The other options might be other proteins related to muscle structure. For example, options could include Titin, Myosin, or others. Titin is a giant protein in muscle involved in elasticity, but not directly linked to Becker. Myosin is part of the contractile units but not the issue here. Collagen is more related to connective tissue. So each wrong option is a different protein that's not the cause here.
The clinical pearl is that Becker and Duchenne both involve dystrophin, but Becker has a milder presentation due to some functional dystrophin remaining. This distinction is important for differential diagnosis and prognosis.
**Core Concept**
Becker muscular dystrophy (BMD) is an X-linked recessive disorder caused by mutations in the *dystrophin* gene. Dystrophin is a structural protein critical for stabilizing muscle cell membranes during contraction. Defective dystrophin leads to progressive skeletal and cardiac muscle degeneration.
**Why the Correct Answer is Right**
Dystrophin deficiency disrupts the dystrophin-glycoprotein complex (DGC), which links the cytoskeleton to the extracellular matrix in muscle fibers. In BMD, mutations produce a truncated but partially functional dystrophin protein, resulting in milder symptoms compared to Duchenne muscular dystrophy (DMD), where dystrophin is entirely absent. This partial functionality delays disease onset and progression.
**Why Each Wrong Option is Incorrect**
**Option A:** *Titin* is a giant sarcomeric protein involved in muscle elasticity; its mutations cause titinopathy, not BMD.
**Option B:** *Myosin* is a motor protein in thick filaments; its dysfunction is seen in myosin storage myopathy.
**Option C:** *Collagen VI* defects cause Ullrich congenital muscular dystrophy, characterized by hypermobile joints and skin findings.
**Clinical Pearl**
Differentiate BMD from DMD by noting preserved ambulation into adulthood and cardiac involvement in BMD. Genetic testing for dystrophin gene mutations is essential for diagnosis.
**Correct Answer: C. Dystrophin**