Autophagic vacuolar myopathies

被引：99

作者：

Ichizo Nishino

机构：

[1] Department of Neuromuscular Research, National Institute of Neuroscience, Natl. Center of Neurology/Psychiatry, Kodaira, Tokyo 187-8502

来源：

Current Neurology and Neuroscience Reports | 2003年 / 3卷 / 1期

关键词：

Myopathy; Glycogen Storage Disease; Inclusion Body Myositis; Distal Myopathy; Acid Maltase;

D O I：

10.1007/s11910-003-0040-y

中图分类号：

学科分类号：

摘要：

Hereditary myopathies characterized by the development of autophagic vacuoles can be categorized into three groups: rimmed vacuolar myopathies, acid maltase deficiency (glycogen storage disease type II), and myopathies characterized by the autophagic vacuoles with unique vacuolar membranes. Rimmed vacuolar myopathies are most likely secondary lysosomal myopathies because all of the identified causative genes encode extralysosomal proteins. Deficiency of acid maltase, a lysosomal enzyme, has been well characterized clinically, pathologically, biochemically, and genetically, and may become treatable in the near future. The diseases in the last category are relatively rare, but appear to be genetically heterogeneous and the list of these diseases is expanding. Danon disease, the best-characterized disorder in this group, is caused by primary deficiency of a lysosomal membrane protein, LAMP-2. Therefore, diseases in this category are expected to be primary lysosomal disease. Copyright © 2003 by Current Science Inc.

引用

页码：64 / 69

页数：5

共 19 条

[1]

Alberts B., Molecular Biology of the Cell, (2001)

[2]

Nonaka I., Sunohara N., Ishiura S., Et al., Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation, J. Neurol. Sci., 51, pp. 141-155, (1981)

[3]

Argov Z., Yarom R., Rimmed vacuole myopathy' sparing the quadriceps: A unique disorder in Iranian Jews, J. Neurol. Sci., 64, pp. 33-43, (1984)

[4]

Ikeuchi T., Asaka T., Saito M., Et al., Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9, Ann. Neurol., 41, pp. 432-437, (1997)

[5]

Mitrani-Rosenbaum S., Argov Z., Blumenfeld A., Et al., Hereditary inclusion body myopathy maps to chromosome 9p1-q1, Hum. Mol. Genet., 5, pp. 159-163, (1996)

[6]

Eisenberg I., Avidan N., Potikha T., Et al., The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy, Nat. Genet., 29, pp. 83-87, (2001)

[7]

Nishino I., Noguchi S., Murayama K., Et al., Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy, Neurology, (2002)

[8]

McFerrin J., Engel W.K., Askanas V., Impaired innervation of cultured human muscle overexpressing beta APP experimentally and genetically: Relevance to inclusion-body myopathies, Neuroreport, 9, pp. 201-3205, (1998)

[9]

Sugarman M.C., Yamasaki T.R.A., Oddo S., Et al., Inclusion body myositis-like phenotype induced by transgenic overexpression of bAPP in skeletal muscle, Proc. Natl. Acad. Sci. USA, 99, pp. 6334-6339, (2002)

[10]

DiMauro S., Musumeci O., Metabolic myopathies, Neuromuscular Disorders in Clinical Practice, (2002)

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