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Ann Neurol. 2019 Feb;85(2):296-301. doi: 10.1002/ana.25393. Epub 2019 Jan 13.

DNA damage signatures in peripheral blood cells as biomarkers in prodromal huntington disease.

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Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.
Department of Biology, University of Naples Federico II, Naples, Italy.
Huntington and Rare Diseases Unit, Scientific Institute for Research and Cure (IRCCS) Casa Sollievo della Sofferenza (Rome-Casa Sollievo della Sofferenza (CSS) Mendel), San Giovanni Rotondo, Italy.
Department of Human Science and Promotion of Quality of Life, San Raffaele Roma Open University, Rome, Italy.
Department of Neurosciences, University of Naples Federico II, Naples, Italy.
Italian League for Research on Huntington and Related Diseases Foundation, Rome, Italy.
Scientific Institute for Research and Cure (IRCCS) Casa Sollievo della Sofferenza, Institute for Stem Cell Biology, Regenerative Medicine, and Innovative Therapies, San Giovanni Rotondo, Italy.
Center for Experimental Neurological Therapies, Department of Neurosciences, Mental Health, and Sensory Organs, Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy.


Easily accessible biomarkers in Huntington disease (HD) are actively searched. We investigated telomere length and DNA double-strand breaks (histone variant pγ-H2AX) as predictive disease biomarkers in peripheral blood mononuclear cells (PBMC) from 25 premanifest subjects, 58 HD patients with similar CAG expansion in the huntingtin gene (HTT), and 44 healthy controls (HC). PBMC from the 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 premanifest stage of HD, negligible in HC, provides a novel tool to monitor premanifest subjects and find patient-specific drugs. Ann Neurol 2018;00:1-6 ANN NEUROL 2019;85:296-301.


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