ArticleJAMA neurology2016
Clinical Phenotype and Segregation of Mitochondrial 3243A>G Mutation in 2 Pairs of Monozygotic Twins.
Article in JAMA neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 34 citations in OpenAlex.
- Mitochondrial Energy Transformation Capacity Influences Brain Activation During Sensory, Affective, and Cognitive Tasks.bioRxiv : the preprint server for biology · 2025Article
- T cell activation contributes to purifying selection against the MELAS-associated m.3243A>G pathogenic variant in blood.Journal of inherited metabolic disease · 2024Article
- Challenges and opportunities to bridge translational to clinical research for personalized mitochondrial medicine.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 1.Journal of neuromuscular diseases · 2023Article
- A genome on shaky ground: exploring the impact of mitochondrial DNA integrity on Parkinson's disease by highlighting the use of cybrid models.Cellular and molecular life sciences : CMLS · 2022Review
- Sensitive quantification of m.3243A>G mutational proportion in non-retinal tissues and its relationship with visual symptoms.Human molecular genetics · 2022Article
- Elderly onset of MELAS in a male: A case report.Frontiers in neurology · 2022Article
- Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype.Frontiers in genetics · 2022Review
- Constitutive activation of the PI3K-Akt-mTORC1 pathway sustains the m.3243 A > G mtDNA mutation.Nature communications · 2021Article
- Applying genomic and transcriptomic advances to mitochondrial medicine.Nature reviews. Neurology · 2021Review
- The molecular pathology of pathogenic mitochondrial tRNA variants.FEBS letters · 2021Review
- Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells.The New England journal of medicine · 2020Article
- Mitochondrial DNA, nuclear context, and the risk for carcinogenesis.Environmental and molecular mutagenesis · 2019Review
- Article
- Health and Disease-Emergent States Resulting From Adaptive Social and Biological Network Interactions.Frontiers in medicine · 2019Article
- mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.EMBO molecular medicine · 2018Article
- Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.Annals of clinical and translational neurology · 2018Article
- The rise of mitochondria in medicine.Mitochondrion · 2016Review
- Disentangling (Epi)Genetic and Environmental Contributions to the Mitochondrial 3243A>G Mutation Phenotype: Phenotypic Destiny in Mitochondrial Disease?JAMA neurology · 2016Article
- Maternally inherited mitochondrial respiratory disorders: from pathogenetic principles to therapeutic implications.Molecular genetics and metabolismReview
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17 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
importanceThe regulatory factors explaining the wide spectrum of clinical phenotypes for mitochondrial 3243A>G mutation are not known. Crosstalk between nuclear genes and mitochondrial DNA might be one factor. OBSERVATIONS: In this case series, we compared 2 pairs of male twins with the mitochondrial 3243 A>G mutation and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome with a female control patient. One pair of monozygotic twins presented with diabetes and deafness in their 30s, stroke-like episodes in their 40s, and cardiac events and death in their 50s. Another pair of twins presented with deafness and stroke-like episodes in their 20s. The degree of heteroplasmy of 3243A>G mutation in the various tissues and organs was similar in the first pair of twins compared with the control patient. CONCLUSIONS AND RELEVANCE: The clinical phenotype and segregation of mitochondrial 3243A>G mutation was similar in monozygotic twins. The onset age and distribution of the symptoms might be regulated by nuclear genes. Our findings might help to predict the clinical course of the surviving twins and afford an opportunity for therapy before the onset of mitochondrial disease, especially for monozygotic twins caused by nuclear transfer with a small amount of nuclear-donor mitochondrial DNA.
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