Dynamin‐2 in nervous system disorders

AM González‐Jamett, V Haro‐Acuña… - Journal of …, 2014 - Wiley Online Library
AM González‐Jamett, V Haro‐Acuña, F Momboisse, P Caviedes, JA Bevilacqua
Journal of Neurochemistry, 2014Wiley Online Library
Dynamin‐2 is a pleiotropic GTP ase 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 …
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.
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