Dynamin-2 function and dysfunction along the secretory pathway.
Dynamin-2 is a ubiquitously expressed mechano-GTPase involved in different stages of the secretory pathway. Its most well-known function relates to the scission of nascent vesicles from the plasma membrane during endocytosis; however, it also participates in the formation of new vesicles from the Golgi network, vesicle trafficking, fusion processes and in the regulation of microtubule, and actin cytoskeleton dynamics. Over the last 8 years, more than 20 mutations in the dynamin-2 gene have been associated to two hereditary neuromuscular disorders: Charcot-Marie-Tooth neuropathy and centronuclear myopathy. Most of these mutations are grouped in the pleckstrin homology domain; however, there are no common mutations associated with both disorders, suggesting that they differently impact on dynamin-2 function in diverse tissues. In this review, we discuss the impact of these disease-related mutations on dynamin-2 function during vesicle trafficking and endocytotic processes.
Facultad de Ciencias, Centro Interdisciplinario de Neurociencia de Valparaíso, Universidad de Valparaíso , Valparaíso , Chile.
Arlek M
AM
González-Jamett
Fanny
F
Momboisse
Valentina
V
Haro-Acuña
Jorge A
JA
Bevilacqua
Pablo
P
Caviedes
Ana María
AM
Cárdenas
Charcot–Marie–Tooth neuropathy; actin; centronuclear myopathy; dynamin-2; endocytosis; exocytosis; microtubules; mutations