| Literature DB >> 18184562 |
Eliana Romero1, Guang-Ho Cha, Patrik Verstreken, Cindy V Ly, Robert E Hughes, Hugo J Bellen, Juan Botas.
Abstract
Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder caused by expansion of a translated CAG repeat in the N terminus of the huntingtin (htt) protein. Here we describe the generation and characterization of a full-length HD Drosophila model to reveal a previously unknown disease mechanism that occurs early in the course of pathogenesis, before expanded htt is imported into the nucleus in detectable amounts. We find that expanded full-length htt (128Qhtt(FL)) leads to behavioral, neurodegenerative, and electrophysiological phenotypes. These phenotypes are caused by a Ca2+-dependent increase in neurotransmitter release efficiency in 128Qhtt(FL) animals. Partial loss of function in synaptic transmission (syntaxin, Snap, Rop) and voltage-gated Ca2+ channel genes suppresses both the electrophysiological and the neurodegenerative phenotypes. Thus, our data indicate that increased neurotransmission is at the root of neuronal degeneration caused by expanded full-length htt during early stages of pathogenesis.Entities:
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Year: 2008 PMID: 18184562 PMCID: PMC2277511 DOI: 10.1016/j.neuron.2007.11.025
Source DB: PubMed Journal: Neuron ISSN: 0896-6273 Impact factor: 17.173