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Physiology · Nerve and muscle: dystrophin
Sample itemA 5-year-old boy has difficulty rising from the floor, calf enlargement and a creatine kinase about twenty times normal. Which protein function is lost?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. Dystrophin, which links the actin cytoskeleton to the sarcolemmal glycoprotein complex
Dystrophin connects intracellular actin to the dystroglycan complex and the extracellular matrix, stabilising the sarcolemma during contraction. Without it, membranes tear, creatine kinase leaks out and fibres are replaced by fat and connective tissue, causing pseudohypertrophy of the calves in Duchenne muscular dystrophy.
Option by option
A. Ryanodine receptor, which releases calcium from the sarcoplasmic reticulum
Ryanodine receptor defects are linked to malignant hyperthermia and central core disease.
B. Dystrophin, which links the actin cytoskeleton to the sarcolemmal glycoprotein complex (correct)
Correct. Loss of the dystrophin link makes the sarcolemma fragile.
C. Nicotinic receptor, which opens at the end plate
Nicotinic receptor loss causes myasthenic syndromes without raised creatine kinase.
D. Titin, which links thick filaments to the Z disc
Titin is a sarcomeric protein and is not the cause of Duchenne dystrophy.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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