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Review
. 2022 Oct 6:13:951185.
doi: 10.3389/fgene.2022.951185. eCollection 2022.

Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype

Danyang Li  1   2 , Chunmei Liang  1   2 , Tao Zhang  3 , Jordan Lee Marley  4 , Weiwei Zou  1   2 , Muqing Lian  1 , Dongmei Ji  1   2
Affiliations
Review

Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype

Danyang Li et al. Front Genet. .

Abstract

The mitochondrial DNA (mtDNA) m.3243A>G mutation is one of the most common pathogenic mtDNA variants, showing complex genetics, pathogenic molecular mechanisms, and phenotypes. In recent years, the prevention of mtDNA-related diseases has trended toward precision medicine strategies, such as preimplantation genetic diagnosis (PGD) and mitochondrial replacement therapy (MRT). These techniques are set to allow the birth of healthy children, but clinical implementation relies on thorough insights into mtDNA genetics. The genotype and phenotype of m.3243A>G vary greatly from mother to offspring, which compromises genetic counseling for the disease. This review is the first to systematically elaborate on the characteristics of the m.3243A>G mutation, from genetics to phenotype and the relationship between them, as well as the related influencing factors and potential strategies for preventing disease. These perceptions will provide clarity for clinicians providing genetic counseling to m.3243A>G patients.

Keywords: fertility counseling; genetics; heteroplasmy; m.3243A>G; phenotype.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
Abstract graph.
FIGURE 2
FIGURE 2
Influencing factors of clinical phenotypes.
See this image and copyright information in PMC

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