期刊
NEUROTHERAPEUTICS
卷 5, 期 4, 页码 601-606出版社
SPRINGER
DOI: 10.1016/j.nurt.2008.07.005
关键词
FSHD; facioscapulohumeral muscular dystrophy; muscular dystrophy; myostatin; chromosome 4
资金
- NCRR NIH HHS [M01 RR000044-440727, M01 RR000044] Funding Source: Medline
- NATIONAL CENTER FOR RESEARCH RESOURCES [M01RR000044] Funding Source: NIH RePORTER
Facioscapulohumeral muscular dystrophy (FSHD), a dominantly inherited disorder, is the third most common dystrophy after Duchenne and myotonic muscular dystrophy. No known effective treatments exist for FSHD. The lack of an understanding of the underlying pathophysiology remains an obstacle in the development of targeted therapeutic interventions. T h e genetic defect is a loss of a critical number of a repetitive element (D4Z4) in the 4q subtelomeric region. The loss of the repeats results in specific changes in chromatin structure, although neither the molecular nor the cellular consequences of this change are known. Nevertheless, these epigenetic changes in chromatin structure offer a potential therapeutic target. This review discusses current management strategies in FSHD as well as potential therapeutic interventions to slow down or reverse the progressive muscle atrophy and weakness.
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