Nishino Ichizo, Ozawa Eijiro
National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
Curr Opin Neurol. 2002 Oct;15(5):539-44. doi: 10.1097/00019052-200210000-00004.
Muscular dystrophy includes many genetically distinct disorders. The list of causative genes for muscular dystrophy has been expanding rapidly, including those for congenital muscular dystrophies.
We review the newly identified causative genes and suggested molecular mechanisms, focusing on glycosylation abnormality of alpha-dystroglycan, collagen VI deficiency, four allelic diseases of caveolin-3 gene, and titin gene mutations.
Several possible mechanisms causing muscular dystrophy were discussed. Defects in extracellular molecules have more significant effects resulting mainly in congenital muscular dystrophy, while intracellular molecular defects show milder effect on the phenotype. These hypotheses may provide a new paradigm in understanding the pathomechanism of muscular dystrophies.
肌营养不良包括许多基因上不同的疾病。肌营养不良致病基因的清单一直在迅速扩大，包括先天性肌营养不良的致病基因。
我们回顾了新发现的致病基因及提出的分子机制，重点关注α- dystroglycan的糖基化异常、胶原蛋白VI缺乏、小窝蛋白-3基因的四种等位基因疾病以及肌联蛋白基因突变。
讨论了几种导致肌营养不良的可能机制。细胞外分子缺陷有更显著的影响，主要导致先天性肌营养不良，而细胞内分子缺陷对表型的影响较小。这些假说可能为理解肌营养不良的发病机制提供新的范例。
