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(American Journal of Pathology. 2005;166:1121-1130.)
© 2005 American Society for Investigative Pathology

Distal Myopathy with Rimmed Vacuoles

Impaired O-Glycan Formation in Muscular Glycoproteins

Youichi Tajima^*, Eiichiro Uyama, Shinji Go, Chihiro Sato, Nodoka Tao^*, Masaharu Kotani^*, Hirotake Hino, Akemi Suzuki, Yutaka Sanai^¶, Ken Kitajima and Hitoshi Sakuraba^*

From the Departments of Clinical Genetics^* and Biochemical Cell Research,^¶ The Tokyo Metropolitan Institute of Medical Science, Tokyo Metropolitan Organization for Medical Research, Tokyo; the Department of Neurology Advanced Biomedical Sciences, Faculty of Medical and Pharmaceutical Sciences, Graduate School of Medical Sciences, Kumamoto University, Kumamoto; the Division of Organogenesis, Bioscience, and Biotechnology Center, Nagoya University, Nagoya; and Supra-Biomolecular Research System, Riken Frontier Research System, Riken, Wako, Japan

Distal myopathy with rimmed vacuoles (DMRV), is an autosomal recessive disorder with early adult onset, displays distal dominant muscular involvement and is characterized by the presence of numerous rimmed vacuoles in the affected muscle fibers. The pathophysiology of DMRV has not been clarified yet, although the responsible gene was identified as that encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase involved in the biosynthesis of sialic acids. To identify defective carbohydrate moieties of muscular glycoproteins from DMRV patients, frozen skeletal muscle sections from seven patients with DMRV, as well as normal and pathological controls, were treated with or without sialidase or N-glycosidase F followed by lectin staining and lectin blotting analysis. The sialic acid contents of the O-glycans in the skeletal muscle specimens from the DMRV patients were also measured. We found that Arachis hypogaea agglutinin (PNA) lectin reacted strongly with sarcolemmal glycoproteins in the DMRV patients but not with those in control subjects. -Dystroglycan from the DMRV patients strongly associated with PNA lectin, although that from controls did not. The sialic acid level of the O-glycans in the DMRV muscular glycoproteins with molecular weights of 30 to 200 kd was reduced to 60 to 80% of the control level. The results show that impaired sialyl O-glycan formation in muscular glycoproteins, including -dystroglycan, occurs in DMRV.

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