Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer's disease-related dysregulation.

ABSTRACT:

Background

Trisomy 21 (T21) is associated with intellectual disability that ranges from mild to profound with an average intellectual quotient of around 50. Furthermore, T21 patients have a high risk of developing Alzheimer's disease (AD) early in life, characterized by the presence of senile plaques of amyloid protein and neurofibrillary tangles, leading to neuronal loss and cognitive decline. We postulate that epigenetic factors contribute to the observed variability in intellectual disability, as well as at the level of neurodegeneration seen in T21 individuals.

Materials and methods

A genome-wide DNA methylation study was performed using Illumina Infinium® MethylationEPIC BeadChips on whole blood DNA of 3 male T21 patients with low IQ, 8 T21 patients with high IQ (4 male

SUBMITTER: Haertle L 

PROVIDER: S-EPMC6916110 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature