Metabolite biomarkers for the diagnosis of Huntingon’s disease (HD) onset and progression.
Provides diagnosis for Huntington’s disease onset and progression.
Huntington’s disease (HD) is an inherited disease which causes neurodegeneration in humans, and affects the central nervous system (CNS). There are approximately 30,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease.Â There currently exists a genetic test to identify whether an individual carries the expanded copy of the HD gene, but no tests for HD onset and progression exist. Identification of novel metabolic biomarkers associated with the onset and/or progression of HD may increase potential for therapeutic development and clinical intervention in treatment of the disease.
Metabolomics, the large-scale analysis of metabolites, has emerged as a powerful profiling tool in biomedical research. Emory University researchers identified, from the plasma and cerebral spinal fluid samples of HD monkeys, metabolites with significant correlation with HD progression over time. From these metabolites, eight were shown to possess the highest potential as early HD biomarkers. These metabolites may lead to the development of novel biomarkers as well as therapeutic options for treatment of pre-onset HD in humans.
Metabolite biomarkers have been identified from cerebral spinal fluid profiling study of HD monkeys and data is available.