Key result
Point mutations in tropomyosin genes are associated with severe hereditary myopathies and cardiomyopathies by altering the structure and function of the tropomyosin-actin complex.
This review summarizes the current understanding of how point mutations in tropomyosin genes lead to structural and functional changes causing skeletal and cardiac myopathies.
The review is devoted to tropomyosin (Tpm) - actin-binding protein, which plays a crucial role in the regulation of contraction of skeletal and cardiac muscles. Special attention is paid to myopathies and cardiomyopathies - severe hereditary diseases of skeletal and cardiac muscles associated with point mutations in Tpm genes. The current views on the molecular mechanisms of these diseases and the effects of such mutations on the Tpm structure and functions are considered in detail. Besides, some part of the review is devoted to analysis of the properties of Tpm homodimers and heterodimers with myopathic substitutions of amino acid residues in only one of the two chains of the Tpm dimeric molecule.
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Matyushenko et al. (2020) conducted a review in Myopathies and cardiomyopathies. Point mutations in tropomyosin (Tpm) genes was evaluated. Point mutations in tropomyosin genes are associated with severe hereditary myopathies and cardiomyopathies by altering the structure and function of the tropomyosin-actin complex.
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