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Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood

ABSTRACT: In this study we investigated the suitability of blood to identify HD transcriptomic biomarkers, validated the outcome in an independent cohort and derived a first empiric panel of biomarkers capable of predicting HD motor scores. Finally we examined whether patient gene expression profiles could provide information about HD affected biological pathways. Examination of differentially expressed genes in peripheral whole blood using linear modelling of gene expression data (3 DGE) against UHDRS total motor scores of Huntington's Disease mutation carriers and controls.

ORGANISM(S): Homo sapiens

SUBMITTER: Anastasios Mastrokolias

PROVIDER: E-GEOD-51799 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood.

Mastrokolias Anastasios A Ariyurek Yavuz Y Goeman Jelle J JJ van Duijn Erik E Roos Raymund A C RA van der Mast Roos C RC van Ommen GertJan B GB den Dunnen Johan T JT 't Hoen Peter A C PA van Roon-Mom Willeke M C WM

European journal of human genetics : EJHG 20150128 10

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. We performed next-generation sequencing-based transcriptome analysis of total RNA from peripheral blood of 91 mutation carriers (27 presymptomatic and, 64 symptomatic) and 33 controls. Transcriptome analysis by DeepSAGE identified 167 genes significantly associated with clinical total motor score in Huntington's disease ...[more]

PMID: 25626709

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