DNA damage signatures in peripheral blood cells (PBMC) as biomarkers in prodromal Huntington's disease

Abstract

Easily accessible biomarkers in Huntington disease (HD) are actively searched. We investigated telomere length (TL) and DNA double−strand breaks (histone variant pγ−H2AX) as predictive disease biomarkers in peripheral blood mononuclear cells (PBMC) from 25 pre‐manifest, 58 HD patients, with similar CAG expansion in the huntingtin gene (HTT) gene and 44 healthy controls (HC).

PBMC from PRE‐HD and HD groups showed shorter telomeres (p<0.0001) and a significant increase of pγ−H2AX compared to the controls (p<0.0001). The levels of pγ‐H2AX correlated robustly with the presence of the mutated gene in PRE‐HD and HD. The availability of a potentially reversible biomarker (pγ−H2AX) in the pre−manifest stage of HD, negligible in HC, provides a novel tool to monitor pre−manifest subjects and find patient−specific drugs.

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