Mitochondrial DNA Variation in the Aging Human Cerebral Cortex and Cerebellum.

ABSTRACT: Somatic differences in mitochondrial DNA (mtDNA) have been observed with aging and between brain regions for mutations, structural variation, and abundance, which are represented by single nucleotide variants (SNVs), large deletions, and copy number, respectively. We used bioinformatic methods to interrogate mtDNA changes and their relation to cortical and cerebellar aging using whole genome sequencing data from the North American Brain Expression Consortium. This dataset contained 292 unpaired postmortem samples from frontal cortex (n = 143) and cerebellum (n = 149), ranging in age from 0.4 to 100 years and without neurological diagnoses (i.e., controls). Our analyses included (a) evaluation of mtDNA copy number using fastMitoCalc; (b) quantification of large mtDNA deletions using Splice-

SUBMITTER: Omidsalar AA 

PROVIDER: S-EPMC12724393 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature