期刊
DISEASE MODELS & MECHANISMS
卷 7, 期 1, 页码 157-161出版社
COMPANY OF BIOLOGISTS LTD
DOI: 10.1242/dmm.012286
关键词
Dynamin-2; Excitation-contraction coupling; Myopathy
资金
- Taubman Medical Research Institute
- National Institutes of Health [1K08AR054835]
- Muscular Dystrophy Association [MDA 186999]
- NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES [T32AR059033, K08AR054835] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [T32NS076401] Funding Source: NIH RePORTER
DNM2 is a ubiquitously expressed GTPase that regulates multiple subcellular processes. Mutations in DNM2 are a common cause of centronuclear myopathy, a severe disorder characterized by altered skeletal muscle structure and function. The precise mechanisms underlying disease-associated DNM2 mutations are unresolved. We examined the common DNM2-S619L mutation using both in vitro and in vivo approaches. Expression of DNM2-S619L in zebrafish led to the accumulation of aberrant vesicular structures and to defective excitation-contraction coupling. Expression of DNM2-S619L in COS7 cells resulted in defective BIN1-dependent tubule formation. These data suggest that DNM2-S619L causes disease, in part, by interfering with membrane tubulation.
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