Characterization of mitochondrial DNA quantity and quality in the human aged and Alzheimer's disease brain.

ABSTRACT:

Background

Mitochondrial dysfunction is a feature of neurodegenerative diseases, including Alzheimer's disease (AD). Changes in the mitochondrial DNA copy number (mtDNAcn) and increased mitochondrial DNA mutation burden have both been associated with neurodegenerative diseases and cognitive decline. This study aims to systematically identify which common brain pathologies in the aged human brain are associated with mitochondrial recalibrations and to disentangle the relationship between these pathologies, mtDNAcn, mtDNA heteroplasmy, aging, neuronal loss, and cognitive function.

Methods

Whole-genome sequencing data from n = 1361 human brain samples from 5 different regions were used to quantify mtDNAcn as well as heteroplasmic mtDNA point mutations and small indels. Brain sa

SUBMITTER: Klein HU 

PROVIDER: S-EPMC8572491 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature