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© Research
Publication : Frontiers in endocrinology

Dynamin-2 function and dysfunction along the secretory pathway

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Frontiers in endocrinology - 18 Sep 2013

González-Jamett AM, Momboisse F, Haro-Acuña V, Bevilacqua JA, Caviedes P, Cárdenas AM

Link to Pubmed [PMID] – 24065954

Front Endocrinol (Lausanne) 2013;4:126

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.

http://www.ncbi.nlm.nih.gov/pubmed/24065954