Huntington’s disease-causing mutations in the huntingtin (mHTT) gene were first identified in 1993, but until now the mutant protein was undetectable in living patients due to its low concentration in the cerebrospinal fluid (CSF). According to the publication in the April 6 Journal of Clinical Investigation, a new immunoassay is able to detect mHTT for the first time in the CSF of HD patients. The assay, developed by an international team of researchers from the University College London, UK, IRBM Promidis in Pomezia, Italy, University of British Columbia, Canada and the CHDI Foundation, enables measurement of mHTT levels in the CSF with high sensitivity and specificity, and importantly, is able to detect changes in mHTT protein concentration as the disease progresses. As this approach is further refined and tested, it could potentially be adapted into a biomarker for drug effect on mHTT concentration, both in human trials and in preclinical studies.
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