The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish
| Autor: | Elizabeth M. Gibbs, Ann E. Davidson, William R. Telfer, Eva L. Feldman, James J. Dowling |
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| Jazyk: | angličtina |
| Rok vydání: | 2014 |
| Předmět: | |
| Zdroj: | Disease Models & Mechanisms, Vol 7, Iss 1, Pp 157-161 (2014) |
| Druh dokumentu: | article |
| ISSN: | 1754-8403 1754-8411 |
| DOI: | 10.1242/dmm.012286 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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