Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy?

Acta Myol. 2007 Dec;26(3):171-5.

Abstract

Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (hIBM) is an adult onset slowly progressive myopathy secondary to mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene that encodes a bifunctional enzyme which catalyzes the rate-limiting step in sialic acid biosynthesis. Many hypotheses have been proposed to explain why patients develop weakness and atrophy, but are most views are obscure and thus are still considered controversial, partly because of the lack of an appropriate model with which these theories could be clarified. In this review, we briefly summarize the progress in DMRV research, and highlight efforts of researchers in generating the animal model for this myopathy.

Publication types

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

MeSH terms

  • Animals
  • Disease Models, Animal
  • Distal Myopathies* / etiology
  • Distal Myopathies* / metabolism
  • Distal Myopathies* / pathology
  • Humans
  • Muscle, Skeletal / metabolism*
  • Muscle, Skeletal / pathology
  • N-Acetylneuraminic Acid / deficiency*
  • Vacuoles / metabolism*
  • Vacuoles / pathology

Substances

  • N-Acetylneuraminic Acid