Pathogenesis of the PolyQ Diseases

A variety of mechanisms have been proposed to explain the molecular pathogenesis of the polyQ diseases, including, most prominently, transcriptional dysregulation and disruption of intracellular trafficking. Contributions from mitochondrial dysfunction, proteasomal impairment, and excitotoxicity are probably important in HD pathogenesis and could be relevant to polyQ-mediated pathology in general. It is now clear that disruption of critical nuclear or cytoplasmic functions can be cytotoxic, and the involvement of either may be contingent on the normal subcellular localization of the polyQ disease protein.

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