Mutant Huntingtin and Elusive Defects in Oxidative Metabolism and Mitochondrial Calcium Handling.

摘要: Elongation of a polyglutamine (polyQ) stretch in huntingtin protein (Htt) is linked to Huntington's disease (HD) pathogenesis. The mutation Htt correlates with neuronal dysfunction the striatum and cerebral cortex eventually leads cell death. exact mechanisms injurious effect mutant (mHtt) on neurons are not completely understood but might include aberrant gene transcription, defective autophagy, abnormal mitochondrial biogenesis, anomalous dynamics, trafficking. In addition, deficiency oxidative metabolism defects Ca(2+) handling considered essential contributing factors HD and, consequently, Since discovery Htt, questions whether mHtt affects if it does, what could be involved were focus numerous investigations. However, despite significant research efforts, detrimental by which impair remain elusive. this paper, I will briefly review studies aimed at clarifying consequences interaction mitochondria discuss experimental results supporting or arguing against effects handling.