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Updated: May 24, 2026

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
Published on: July 12, 2022
Analysis of mitochondrial DNA mutations : deletions
R W Taylor1, T M Wardell, E L Blakely
1Department of Neurology, The Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, UK.
Abstract:
Although the precise mechanisms of the aging process remain poorly understood, a plausible theory for cellular dysfunction and deterioration during aging involves mitochondria (1, 2). The major function of mitochondria is to generate energy for cellular processes in the form of ATP by oxidative phosphorylation. Mitochondria contain their own DNA (mtDNA), a small 16.5 kb circular molecule that encodes 13 essential polypeptides of the mitochondrial respiratory chain, as well as 2 rRNAs and 22 tRNAs required for intramitochondrial protein synthesis (3). The mitochondrial respiratory chain is a series of five, multisubunit protein complexes located within the inner mitochondrial membrane. The first four of these (complexes I-IV) reoxidize reduced cofactors (NADH and FADH(2)) generated by the oxidation of foodstuffs, thereby generating an electrochemical gradient across the inner mitochondrial membrane which is harnessed by the fifth complex, the ATP synthetase, to drive the formation of ATP.
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