ReviewFrontiers in genetics2022
Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype.
Review in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
45 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- A young male with kidney damage from genetic mitochondrial disease: case report and literature review.BMC nephrology · 2026Pooled it
- The Role of Primary Mitochondrial Disorders in Hearing Impairment: An Overview.Medicina (Kaunas, Lithuania) · 2023Pooled it
- Mitochondrial cardiomyopathy: bridging molecular mechanisms and clinical frontiers.Nature reviews. Cardiology · 2026Review
- Curcumin Protects SDH2 Mutant from Oxidative Stress and Improves Mitochondrial Function: Application Potential for Complex II Deficiency.International journal of molecular sciences · 2026Article
- A dual-organ genetic interplay between sensorineural hearing loss and kidney disease: an update for clinicians.Pediatric nephrology (Berlin, Germany) · 2026Review
- Patient specific regulation of metabolism and cell death pathways in m.3243A>G mutated iPS-cells.Scientific reports · 2026Article
- Before biliary atresia is claimed as a phenotypic manifestation of the m.3243A>G variant, the causal relationship must be proven.Translational pediatrics · 2026Article
- Clinical characteristics and hearing impairment in carriers of the m.3243 A > G variant.Journal of human genetics · 2026Article
- Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Review
- Electroacupuncture in the treatment of non-alcoholic fatty liver disease: mechanistic insights and therapeutic potential.Frontiers in medicine · 2026Review
- Pathogenic role of mitochondrial DNA mutations in heart failure: clinical features, mechanisms, and therapeutic prospects.Frontiers in cardiovascular medicine · 2026Review
- Clinical Validation of Digital PCR for Precise m.3243A>G Heteroplasmy Quantification in Early-Onset Diabetes.Journal of diabetes research · 2026Article
- Sequential development of three syndromes in a patient with m.3243A>G mutation: a case report.Frontiers of medicine · 2025Article
- Single-molecule DNA analysis implicates brain mitochondria pathology in bipolar disorder.Molecular psychiatry · 2025Article
- Biological and translational attributes of mitochondrial DNA copy number: Laboratory perspective to clinical relevance.World journal of methodology · 2025Review
- Saliva and blood cell-free mtDNA reactivity to acute psychosocial stress.Psychoneuroendocrinology · 2025Article
- The mitochondrial disease biomarker GDF15 is dynamic, quantifiable in saliva, and correlates with disease severity.Molecular genetics and metabolism · 2025Article
- Letter to the Editor From Finsterer "Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy".JCEM case reports · 2025Article
- The m.3290T > C variant might be a protective factor against the pathogenic m.3243 A > G variant: a case study.Orphanet journal of rare diseases · 2025Article
- Optimization of mtDNA-targeted platinum TALENs for bi-directionally modifying heteroplasmy levels in patient-derived m.3243A>G-iPSCs.Molecular therapy. Nucleic acids · 2025Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.