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Tropomyosins in Skeletal Muscle Diseases

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Tropomyosin

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 644))

Abstract

A number of congenital muscle diseases and disorders are caused by mutations in genes that encode the proteins present in or associated with the thin filaments of the muscle sarcomere.1 These genes include α-skeletal actin (ACTA1), β-tropomyosin (TPM2), α-tropomyosin slow (TPM3), nebulin (NEB), troponin I fast (TNNI2), troponin T slow (TNNT1), troponin T fast (TNNT3) and cofilin (CFL2). Mutations in two of the four tropomyosin (Tm) genes, TPM2 and TPM3, result in at least three different skeletal muscle diseases and one disorder as distinguished by the presence of specific clinical features and/or structural abnormalities—nemaline myopathy (TPM2 and TPM3)2,3 distal arthrogryposis (TPM2)4 cap disease (TPM2)5 and congenital fiber type disproportion (TPM3)6. These disease have overlapping clinical features and pathologies and there are cases of family members who have the same mutation, but different diseases (Table 1). The relatively recent discovery of nonmuscle or cytoskeletal Tms in skeletal muscle7 adds to this complexity since it is now possible that a disease-causing mutation could be in a striated isoform and a cytoskeletal isoform both present in muscle.

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Authors and Affiliations

  1. Muscle Development Unit Children’s Medical Research Institute, University of Sydney, Sydney, Australia

    Anthony J. Kee

  2. Faculty of Medicine, University of Sydney, Sydney, Australia

    Anthony J. Kee

  3. Department of Anatomy School of Medical Sciences Faculty of Medicine, University of New South Wales, Sydney, NSW, 2052, Australia

    Edna C. Hardeman

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  1. Anthony J. Kee
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  2. Edna C. Hardeman
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Correspondence to Edna C. Hardeman .

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  1. Oncology Research Unit, Department of Pharmacology School of Medical Sciences, University of New South Wales, Sydney, New South Wales, Australia

    Peter Gunning PhD

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Kee, A.J., Hardeman, E.C. (2008). Tropomyosins in Skeletal Muscle Diseases. In: Gunning, P. (eds) Tropomyosin. Advances in Experimental Medicine and Biology, vol 644. Springer, New York, NY. https://doi.org/10.1007/978-0-387-85766-4_12

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