Assessing Mitochondrial DNA Deletions and Copy-Number Changes in Microdissected Neurons

Abstract

Mitochondrial DNA (mtDNA) mutations are involved in a broad spectrum of monogenic and complex diseases, commonly affecting the nervous system, as well as in the process of aging. Accurate assessment of mtDNA changes in the brain presents several methodological challenges, relating mainly to the heteroplasmic nature and cell-type specificity of these mutations. Here, we describe selected methodologies designed to detect and quantify mtDNA copy number, -deletions, and -single nucleotide variants in individual neurons, derived from postmortem brain tissue.