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Dynamin‐2 in nervous system disorders
Author(s) -
GonzálezJamett Arlek M.,
HaroAcuña Valentina,
Momboisse Fanny,
Caviedes Pablo,
Bevilacqua Jorge A.,
Cárdenas Ana M.
Publication year - 2014
Publication title -
journal of neurochemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.75
H-Index - 229
eISSN - 1471-4159
pISSN - 0022-3042
DOI - 10.1111/jnc.12455
Subject(s) - dynamin , biology , nervous system , neuroscience , synaptic vesicle , peripheral nervous system , synapse , central nervous system , endocytosis , genetics , receptor , vesicle , membrane
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 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.