Nemaline myopathy is a condition characterised by weakness of the skeletal muscl

Question

Nemaline myopathy is a condition characterised by weakness of the skeletal muscles, and is often accompanied by respiratory paralysis. The severity of the disease varies; some patients die early in childhood due to respiratory paralysis, while others are relatively unaffected but have difficulty walking or standing. Some forms of nemaline myopathy are caused by a mutation in the gene encoding tropomyosin. In a paragraph, explain why patients with mutations in the tropomyosin gene could cause patients to experience these symptoms. Include at least one specific example of a molecular interaction between tropomyosin and another protein that could be disrupted by the tropomyosin mutation

Explanation / Answer

The mutation in -tropomyosin decreases the sensitivity of muscle contraction in response to Ca2+ that leads to a condition called hypotonia.

-tropomyosin mutation inhibits the thin filaments length and activation by affecting troponin protein and also denies the proper formation of myosin cross-bridges that associated with defective muscle contraction.

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