Distal myopathy with rimmed vacuoles - Impaired O-glycan formation in muscular glycoproteins

被引:50
作者
Tajima, Y
Uyama, E
Go, S
Sato, C
Tao, N
Kotani, M
Hino, H
Suzuki, A
Sanai, Y
Kitajima, K
Sakuraba, H
机构
[1] Tokyo Metropolitan Org Med Res, Dept Clin Genet, Tokyo Metropolitan Inst Med Sci, Bunkyo Ku, Tokyo 1138613, Japan
[2] Tokyo Metropolitan Org Med Res, Dept Biochem Cell Res, Tokyo Metropolitan Inst Med Sci, Bunkyo Ku, Tokyo 1138613, Japan
[3] Kumamoto Univ, Dept Neurol Adv Biomed Sci, Fac Med & Pharmaceut Sci, Grad Sch Med Sci, Kumamoto, Japan
[4] Nagoya Univ, Div Organogenesis, Biosci & Biotechnol Ctr, Nagoya, Aichi, Japan
[5] RIKEN, SupraBiomol Res Syst, Riken Frontier Res Syst, Wako, Saitama 35101, Japan
基金
日本学术振兴会;
关键词
D O I
10.1016/S0002-9440(10)62332-2
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
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 Aracbis hypogaea agglutinin (PNA) lectin reacted strongly with sarcolemmal glycoproteins in the DMRV patients but not with those in control subjects. a-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 a-dystroglycan, occurs in DMRV.
引用
收藏
页码:1121 / 1130
页数:10
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