Dynamin-2 in nervous system disorders
Keywords: alzheimer's disease, cytoskeleton, centronuclear myopathy, dynamin-2, Charcot-Marie-Tooth neuropathy, vesicles trafficking
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.
Más información
| Título según WOS: | Dynamin-2 in nervous system disorders |
| Título de la Revista: | JOURNAL OF NEUROCHEMISTRY |
| Volumen: | 128 |
| Número: | 2 |
| Editorial: | American Society for Neurochemistry |
| Fecha de publicación: | 2014 |
| Página de inicio: | 210 |
| Página final: | 223 |
| Idioma: | English |
| DOI: |
10.1111/jnc.12455 |
| Notas: | ISI |