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Thin Filament Diseases of Striated Muscle

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Cytoskeleton and Human Disease

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Abstract

Mutations in many genes that encode proteins that form or associate with the thin filament of the striated muscle sarcomere cause congenital skeletal and cardiac muscle diseases. These genes include skeletal and cardiac actin, troponin I and T, cardiac troponin C, tropomyosin, nebulin, and cofilin. The pathophysiological features of the skeletal and cardiac diseases are very distinct even in cases where the mutations are in similar regions of the same gene in the two tissues. Furthermore, in skeletal muscle, the pathologies vary widely between muscles even when there is equal expression of the mutated protein. This speaks to the muscle-specific nature of thin filament gene mutations. The recent recognition that cytoskeletal forms of tropomyosins are present in striated muscle raises the possibility that disease phenotypes may be due to mutations in both cytoskeletal and striated muscle isoforms.

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  1. Neuromuscular and Regenerative Medicine Unit, Department of Anatomy, School of Medical Sciences, University of New South Wales, 2052, Kensington, NSW, Australia

    Anthony J. Kee & Edna C. Hardeman

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  1. Australia for Medical Research, Iron Metabolism Program, Children's Cancer Institute, Randwick, New South Wales, Australia

    Maria Kavallaris

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Kee, A.J., Hardeman, E.C. (2012). Thin Filament Diseases of Striated Muscle. In: Kavallaris, M. (eds) Cytoskeleton and Human Disease. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-61779-788-0_6

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