title: 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?
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.
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan.
authors.forename: M C V
authors.initials: MC
authors.lastname: Malicdan
authors.forename: S
authors.initials: S
authors.lastname: Noguchi
authors.forename: I
authors.initials: I
authors.lastname: Nishino
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D049310:Distal Myopathies / Q000209:etiology / Q000378:metabolism / Q000473:pathology; D006801:Humans; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology; D019158:N-Acetylneuraminic Acid / Q000172:deficiency*; D014617:Vacuoles / Q000378:metabolism* / Q000473:pathology
chemical_list: D019158:N-Acetylneuraminic Acid