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Animal Mitochondrial Genetics

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...

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Updated: Aug 15, 2025

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction

Published on: July 12, 2022

High-frequency and functional mitochondrial DNA mutations at the single-cell level.

Xiaoxian Guo^1,2, Weilin Xu¹, Weiping Zhang¹

¹Division of Nutritional Sciences, Cornell University, Ithaca, NY 14853.

Proceedings of the National Academy of Sciences of the United States of America

|December 28, 2022

Summary

Mitochondrial DNA (mtDNA) mutations are common in aging cells. A new cost-effective sequencing method, scSTAMP, reveals that over 50% of cells from an older individual carry pathogenic mtDNA mutations.

Keywords:

aging mitochondrial DNA single cell

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Last Updated: Aug 15, 2025

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Published on: July 12, 2022

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Published on: February 10, 2023

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Published on: May 5, 2023

Area of Science:

Genetics
Molecular Biology
Aging Research

Background:

Mitochondrial dysfunction is linked to aging and age-related diseases.
The role of mitochondrial DNA (mtDNA) mutations in aging is not fully understood.
Existing single-cell mtDNA sequencing methods are costly and inefficient.

Purpose of the Study:

To develop a cost-effective method for single-cell mtDNA mutation analysis.
To quantify mtDNA mutations and their pathogenic effects at the single-cell level.
To investigate the prevalence and characteristics of mtDNA mutations in aging cells.

Main Methods:

Developed and validated a new protocol: single-cell sequencing by targeted amplification of multiplex probes (scSTAMP).
Applied scSTAMP to analyze mtDNA mutations in B lymphocytes and monocytes from a 76-year-old female.
Quantified mtDNA mutation frequency, variant allele frequencies (VAFs), and predicted pathogenicity.

Main Results:

Over 50% of analyzed cells carried mtDNA mutations with VAFs >20%.
Mutations were prevalent in protein-coding genes, with over 50% predicted to be highly pathogenic.
Approximately 80% of observed mutations were singletons within their respective cell populations.

Conclusions:

Functional mtDNA mutations may be widespread in cells during advanced age.
The scSTAMP method offers a reliable and cost-effective approach for single-cell mtDNA mutation studies.
Further research is needed to understand age-related mtDNA mutation dynamics at the single-cell level.