ArticleAnnals of clinical and translational neurology2018
Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.
Article in Annals of clinical and translational neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 90 papers, 1 of them a synthesis that pooled it.
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Who cites it
90 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Systematic review of cognitive deficits in adult mitochondrial disease.European journal of neurology · 2020Pooled it
- Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation.Brain : a journal of neurology · 2025Trial
- Intrafamilial phenotypic heterogeneity in carriers of the m.3303C > T mutation cannot be explained solely by heteroplasmy levels.Molecular genetics and metabolism reports · 2026Article
- Advances in diagnosis of mitochondrial dysfunction and primary mitochondrial disease.Disease models & mechanisms · 2026Review
- Mitochondrial DNA A3243G variant-associated MELAS: Recent advances in clinical trials, therapeutic interventions, and disease-modifying strategies.Intractable & rare diseases research · 2026Review
- Unrecognized mitochondrial diabetes cases in a group of patients with type 2 diabetes.Acta diabetologica · 2026Article
- Cross-species urinary metabolomics identifies 2-hydroxyisovalerate as a candidate biomarker for mtDNA-based disorders.Metabolomics : Official journal of the Metabolomic Society · 2026Article
- Identification of Nuclear Genetic Loci Linked to Clinical Features of the m.3243A>G Mitochondrial DNA Variant.Neurology. Genetics · 2026Article
- Advances in Primary Mitochondrial Diseases: Diagnosis, Natural History Studies and Clinical Trials.Genes · 2026Review
- Mitochondrial DNA heteroplasmy drives cortical neuronal disturbances in human organoids harbouring the common m.3243A>G mutation.Nature communications · 2026Article
- Mitochondrial cardiomyopathy: bridging molecular mechanisms and clinical frontiers.Nature reviews. Cardiology · 2026Review
- Patient specific regulation of metabolism and cell death pathways in m.3243A>G mutated iPS-cells.Scientific reports · 2026Article
- Clinical characteristics and hearing impairment in carriers of the m.3243 A > G variant.Journal of human genetics · 2026Article
- Atypical clinical manifestation of MT-TL1 mutation in 6 months old patient.Acta neurologica Belgica · 2026Article
- Conventional and Shared Genetic Association Analysis Between Diabetes Mellitus and Sensorineural Hearing Loss.Human mutation · 2026Article
- Clinical Validation of Digital PCR for Precise m.3243A>G Heteroplasmy Quantification in Early-Onset Diabetes.Journal of diabetes research · 2026Article
- Many Factors Determine Phenotypic Heterogeneity in LHON [Letter].International medical case reports journal · 2026Article
- Quantifying variability of mitochondrial markers in m3243A > G myopathy.Scientific reports · 2025Article
- Cognitive impairment profile in patients with the m.3243A> G variant in mitochondrial DNA.BMC neurology · 2025Article
- Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.HGG advances · 2025Article
30 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
Objective: The pathogenic mitochondrial DNA m.3243A>G mutation is associated with a wide range of clinical features, making disease prognosis extremely difficult to predict. We aimed to understand the cause of this heterogeneity. Methods: We examined the phenotypic profile of 238 adult m.3243A>G carriers (patients and asymptomatic carriers) from the UK MRC Mitochondrial Disease Patient Cohort using the Newcastle Mitochondrial Disease Adult Scale. We modeled the role of risk factors for the development of specific phenotypes using proportional odds logistic regression. As mitochondria are under the dual control of their own and the nuclear genome, we examined the role of additive nuclear genetic factors in the development of these phenotypes within 46 pedigrees from the cohort. Results: Seizures and stroke-like episodes affect 25% and 17% of patients, respectively; more common features include hearing impairment, gastrointestinal disturbance, psychiatric involvement, and ataxia. Age, age-adjusted blood heteroplasmy levels, and sex are poor predictors of phenotypic severity. Hearing impairment, diabetes, and encephalopathy show the strongest associations, but pseudo- Interpretation: Our results provide good evidence for the presence of nuclear genetic factors influencing clinical outcomes in m.3234A>G-related disease, paving the way for future work identifying these through large-scale genetic linkage and association studies, increasing our understanding of the pathogenicity of m.3243A>G and providing improved estimates of prognosis.
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