Widespread domain-like perturbations of DNA methylation in whole blood of Down syndrome neonates.

ABSTRACT:

Introduction

Down syndrome (DS) is the most frequent genetic cause of intellectual disability. Despite the fact that more than 50 years have passed since the discovery of its genetic aberrations, the exact pathogenesis of the DS phenotype has remained largely unexplained. It was recently hypothesized that the DS pathogenesis involves complex (epi)genetic, molecular and cellular determinants. To date, many reports have addressed epigenetic aberrations associated with DS at different developmental stages/ages and tissue types, but to our best knowledge not in DS newborns. This study aimed to investigate genome-wide methylation patterns in DS newborns compared to non-trisomic newborns.

Method

We analyzed blood samples obtained from ten newborns with DS and five age-matched non-

SUBMITTER: Henneman P 

PROVIDER: S-EPMC5877863 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature