Huntington's disease is a fatal, inherited neurodegenerative disorder caused by a mutation in the gene encoding huntingtin. Expresion of mutant huntingtin (mHTT) protein is correlated with the onset and progression of the disease and new therapies are being developed to reduce the expression of mHTT. In order to evaluate these new therapies, researchers need to be able to quantify the amount of mHTT in a particular patient; however, non-invasive quantification of mHTT isn't currently possible. In this issue of the Journal of Clinical Investigation, researchers led by Sarah Tabrizi at University College London report that mHTT can be detected in immune cells isolated during a normal blood draw. mHTT levels were significantly correlated with disease symptom severity, indicating that this test could serve as a non-invasive biomarker for Huntington's disease.
Mutant huntingtin fragmentation in immune cells tracks Huntington's disease progression
UCL Institute of Neurology, London, UNK, GBR
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