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Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

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Germline and somatic mtDNA mutations in mouse aging.

Hong Ma^1,2, Yeonmi Lee^1,2,3, Tomonari Hayama^1,2

¹Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University, Portland, Oregon, United States of America.

|July 25, 2018

Summary

This summary is machine-generated.

Mitochondrial DNA (mtDNA) mutations do not accumulate with aging in wild-type mice, unlike in humans. However, inherited mtDNA variants expand with age, and both somatic and germline mutations occur in premature aging models.

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Area of Science:

Mitochondrial biology
Genetics
Aging research

Background:

Accumulation of acquired mitochondrial genome (mtDNA) mutations in somatic cells is linked to human aging and age-onset diseases.
The role of somatic mtDNA mutations in the aging process of mice remains largely unexplored.

Purpose of the Study:

To investigate the presence and accumulation of somatic mtDNA mutations during aging in wild-type (wt) mice.
To examine the association of germline and somatic mtDNA mutations with aging in a mouse model of premature aging (Polg mutator mice).

Main Methods:

Whole genome sequencing of mtDNA from multiple organs and tissues of young and old wt mice.
Analysis of heteroplasmy levels of germline mtDNA variants.
Comparison of mtDNA mutation profiles between wt and Polg mutator mice.

Main Results:

No acquired somatic mtDNA mutations were detected in wt mice during aging.
Significant increase in heteroplasmy levels of certain non-synonymous germline mtDNA variants with age in wt mice, suggesting clonal expansion.
Polg mutator mice exhibited increased numbers and heteroplasmy levels of both germline and somatic mtDNA mutations with age.

Conclusions:

Acquired somatic mtDNA mutations do not appear to be a hallmark of aging in wild-type mice, contrasting with findings in humans.
Clonal expansion of inherited germline mtDNA variants may play a role in mouse aging.
mtDNA mutations, both somatic and germline, are implicated in the premature aging phenotype observed in Polg mutator mice.