Aberrant Promoter Hypomethylation of Sortilin 1: A Moyamoya Disease Biomarker.

ABSTRACT:

Background and purpose

The pathogenesis of moyamoya disease (MMD) remains poorly understood, and no reliable molecular biomarkers for MMD have been identified to date. The present study aimed to identify epigenetic biomarkers for use in the diagnosis of MMD.

Methods

We performed integrated analyses of gene expression profiles and DNA methylation profiles in endothelial colony forming cells (ECFCs) from three patients with MMD and two healthy individuals. Candidate gene mRNA expression and DNA methylation status were further validated using reverse transcription-quantitative polymerase chain reaction (RT-qPCR) and pyrosequencing analysis of an expanded ECFC sample set from nine patients with MMD and ten controls. We evaluated the diagnostic accuracy of the potential biomarker

SUBMITTER: Sung HY 

PROVIDER: S-EPMC6186926 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature