Hypothesis: Huntingtin may function in membrane association and vesicular trafficking.

摘要: Huntington's disease is a progressive neurodegenerative genetic disorder that caused by CAG triplet-repeat expansion in the first exon of IT15 gene. This results polyglutamine 350 kDa huntingtin protein. The exact function unknown. Understanding pathological triggers mutant huntingtin, and distinguishing cause from downstream effects, critical to designing therapeutic strategies defining long- short-term goals therapy. Many studies have sought determine functions determining huntingtin's protein-protein interactions been published. Through these studies, has seen interact with large number proteins, likely scaffolding protein for interactions. Recently, using imaging, integrative proteomics, cell biology, defined as membrane-associated protein, activities related axonal trafficking vesicles mitochondria. These also attributed some huntingtin-interacting proteins. Additionally, discoveries membrane association domain palmitoylation site reinforce fact associated. In mouse fly models, vesicle inhibited, lack proper uptake neurotrophic factors may be an important trigger leading striatal death disease. Here we discuss recent advances many independent groups methodologies are starting resolve elusive transport, evidence suggests directly involved