Related Experiment Video
Updated: May 6, 2026

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
Published on: July 12, 2022
Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease
Douglas C Wallace1, Dimitra Chalkia
1Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104.
Abstract:
The unorthodox genetics of the mtDNA is providing new perspectives on the etiology of the common "complex" diseases. The maternally inherited mtDNA codes for essential energy genes, is present in thousands of copies per cell, and has a very high mutation rate. New mtDNA mutations arise among thousands of other mtDNAs. The mechanisms by which these "heteroplasmic" mtDNA mutations come to predominate in the female germline and somatic tissues is poorly understood, but essential for understanding the clinical variability of a range of diseases. Maternal inheritance and heteroplasmy also pose major challengers for the diagnosis and prevention of mtDNA disease.
Related Concept Videos
Animal Mitochondrial Genetics
Export of Mitochondrial and Chloroplast Genes
Non-nuclear Inheritance
Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes
Genetic Variation
Genes exist in different versions called alleles,...
Incomplete Dominance

