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Single-nucleus analysis reveals oxidative stress in Down syndrome basal forebrain neurons at birth.


ABSTRACT:

Introduction

Basal forebrain cholinergic neurons (BFCNs) are integral to learning, attention, and memory, and are prone to degeneration in Down syndrome (DS), Alzheimer's disease, and other neurodegenerative diseases. However, the mechanisms that lead to the degeneration of these neurons are not known.

Methods

Single-nucleus gene expression and Assay for Transposase-Accessible Chromatin (ATAC) sequencing were performed on postmortem human basal forebrain from unaffected control and DS tissue samples at 0-2 years of age (n = 4 each).

Results

Sequencing analysis of postmortem human basal forebrain identifies gene expression differences in DS early in life. Genes encoding proteins associated with energy metabolism pathways, specifically oxidative phosphorylation and glyc

SUBMITTER: West NR 

PROVIDER: S-EPMC12265022 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature