With several therapeutic approaches in development for Huntington’s disease, there is a need for easily accessible biomarkers to monitor disease progression and therapy response.

Researchers at Leiden University Medical Center in The Netherlands have discovered a panel of five genes whose expression in whole blood correlates with progression of Huntington’s disease.

In a study published in The European Journal of Human Genetics, the group reported that transcriptome analysis of 91 Huntington’s mutation carriers, about one third of whom were presymptomatic, and 33 controls yielded 167 differentially expressed genes. Twelve of the top 20 genes were validated using a different technique, and five of these proved significant in a smaller, independent cohort as well.

The authors suggest a first empiric formula predicting total motor score from the expression levels of our biomarker panel. Their data supports the view that peripheral blood is a useful source to identify biomarkers for Huntington’s disease and monitor disease progression in future clinical trials.

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פברואר 5, 2015