Huntington’s disease (HD) is widely viewed as a toxic gain-of-function disorder, with mutant huntingtin protein (mHTT) causing widespread cellular dysfunction and consequential cytotoxicity. Given the diverse functions and interactivity of physiological HTT, mHTT affects transcriptional regulation, synaptic function, autophagy, vesicle and endosomal trafficking, and cell division and survival, to name but a few. Given the paramount role of mHTT in HD pathogenesis, it is no surprise that it is showing great promise as a biomarker to assess disease status and/or assess the impact of investigational agents. Lauren Byrne, PhD, UCL Queen Square Institute of Neurology, London, UK, discusses recent progress in the development of ultrasensitive immunoassays for HTT measurement in cerebrospinal fluid. Developing polyglutamine-independent HTT assays is one particular focus at the moment. This interview took place during the European Huntington’s Disease Network 2022 Plenary Meeting.
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