Literature DB >> 24102355

Dynamin-2 in nervous system disorders.

Arlek M González-Jamett1, Valentina Haro-Acuña, Fanny Momboisse, Pablo Caviedes, Jorge A Bevilacqua, Ana M Cárdenas.   

Abstract

Dynamin-2 is a pleiotropic GTPase whose best-known function is related to membrane scission during vesicle budding from the plasma or Golgi membranes. In the nervous system, dynamin-2 participates in synaptic vesicle recycling, post-synaptic receptor internalization, neurosecretion, and neuronal process extension. Some of these functions are shared with the other two dynamin isoforms. However, the involvement of dynamin-2 in neurological illnesses points to a critical function of this isoform in the nervous system. In this regard, mutations in the dynamin-2 gene results in two congenital neuromuscular disorders. One of them, Charcot-Marie-Tooth disease, affects myelination and peripheral nerve conduction, whereas the other, Centronuclear Myopathy, is characterized by a progressive and generalized atrophy of skeletal muscles, yet it is also associated with abnormalities in the nervous system. Furthermore, single nucleotide polymorphisms located in the dynamin-2 gene have been associated with sporadic Alzheimer's disease. In the present review, we discuss the pathogenic mechanisms implicated in these neurological disorders.
© 2013 International Society for Neurochemistry.

Entities:  

Keywords:  Alzheimer's disease; Charcot-Marie-Tooth neuropathy; centronuclear myopathy; cytoskeleton; dynamin-2; vesicles trafficking

Mesh:

Substances:

Year:  2013        PMID: 24102355     DOI: 10.1111/jnc.12455

Source DB:  PubMed          Journal:  J Neurochem        ISSN: 0022-3042            Impact factor:   5.372


  14 in total

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