Detection and Quantification of Mitochondrial DNA Deletions in Individual Cells by RT-qPCR (CAT#: STEM-MT-0040-LGZ)

Introduction

Mitochondrial DNA (mtDNA) defects are an important cause of disease and play a role in the aging process. In a cell, there are multiple copies of the mitochondrial genome. In many patients with acquired or inherited mtDNA mutations, a mixture of mutant and wild-type genomes (known as heteroplasmy) exists within a single cell. As biochemical and clinical defects are only observed when high levels of mtDNA mutations are present, determining heterogeneous mutation levels within tissues and single cells is a critical study.