期刊
CURRENT OPINION IN NEUROLOGY
卷 20, 期 5, 页码 572-576出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/WCO.0b013e3282ef6064
关键词
MBNL1; myotonia; myotonic dystrophy; RNA disease; spliceopathy
资金
- NIAMS NIH HHS [L30 AR053072, AR046806, AR/NS48143] Funding Source: Medline
- NINDS NIH HHS [NS48843] Funding Source: Medline
Purpose of review The aim of this review is to highlight recent progress in elucidating the disease mechanism in myotonic dystrophy type 1 and type 2. Recent findings Research on myotonic dystrophy has led to the recognition of a novel RNA-mediated disease process. In myotonic dystrophy it is the RNA rather than protein product of a disease gene that has deleterious effects on muscle cells. These unusual RNAs, which contain a long expanse of CUG or CCUG repeats, have far reaching effects on cell function by influencing the biogenesis of other cellular RNAs. One aspect of RNA metabolism that is particularly affected is the regulation of alternative splicing. By this mechanism, effects of myotonic dystrophy repeat expansions impact many different pathways, triggering a complex set of signs and symptoms. Summary The genetic lesion in myotonic dystrophy does not eliminate an essential muscle protein. Instead, it induces a defect of RNA processing that is potentially reversible. The nature of this disease process raises the possibility that myotonic dystrophy, among genetic disorders, may be unusually susceptible to treatment using non-gene-therapy approaches.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据