Surplus protein myopathies

Neuromuscul Disord. 2001 Jan;11(1):3-6. doi: 10.1016/s0960-8966(00)00165-6.

Abstract

Certain muscular dystrophies are marked by absence or reduction of mutant proteins, foremost dystrophinopathies and sarcoglycanopathies. Conversely, other sporadic and familial neuromuscular conditions are marked by a surplus of proteins present in a granular or filamentous form, such as desmin-related myopathies, actinopathy and, perhaps, hyaline body myopathy. This emerging group of congenital myopathies is clinically, immunohistochemically, and genetically diverse. Clinically, early- and late-onset diseases with variable courses are described. Immunohistochemically, mutant gene-related and other proteins have been identified by immunohistochemistry. Mutations in the desmin and alpha-B crystallin genes have been discovered in desminopathies. Mutations in the actin gene, but in no other genes have been revealed in actinopathy. Surplus sarcoplasmic and/or intranuclear nemaline bodies have been related to mutant tropomyosin-3, actin and nebulin genes. This emerging concept of surplus protein myopathies will require substantial investigation to further interpret the results of present and future studies.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Humans
  • Inclusion Bodies / metabolism
  • Muscle Proteins / metabolism*
  • Muscle, Skeletal / metabolism*
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / metabolism*
  • Muscular Dystrophies / pathology

Substances

  • Muscle Proteins