ArticleMetabolomics : Official journal of the Metabolomic Society2021
One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.
Article in Metabolomics : Official journal of the Metabolomic Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 23 citations in OpenAlex.
- Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation.Brain : a journal of neurology · 2025Trial
- Cross-species urinary metabolomics identifies 2-hydroxyisovalerate as a candidate biomarker for mtDNA-based disorders.Metabolomics : Official journal of the Metabolomic Society · 2026Article
- Metabolomic signature reveals dysregulated lipoprotein profile in m.3243A>G carriers: a case-control study.Metabolomics : Official journal of the Metabolomic Society · 2026Article
- Decoding rare inherited metabolic disorders: advancing precision in screening and diagnosis.Orphanet journal of rare diseases · 2026Review
- Sequential development of three syndromes in a patient with m.3243A>G mutation: a case report.Frontiers of medicine · 2025Article
- Diabetes Associated With Maternally Inherited Diabetes and Deafness (MIDD): From Pathogenic Variant to Phenotype.Diabetes · 2025Review
- Serum metabolomics signature of maternally inherited diabetes and deafness by gas chromatography-time of flight mass spectrometry.Journal of diabetes investigation · 2025Article
- Precision treatment of beta-cell monogenic diabetes: a systematic review.Communications medicine · 2024Article
- Mitochondrial Biomarkers in the Omics Era: A Clinical-Pathophysiological Perspective.International journal of molecular sciences · 2024Review
- An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism.Molecular genetics and metabolism · 2024Review
- Systematic Review of Treatment of Beta-Cell Monogenic Diabetes.medRxiv : the preprint server for health sciences · 2023Article
- Hearing Impairment and Neuroimaging Results in Mitochondrial Diseases.Journal of personalized medicine · 2023Article
- Article
- The Role of Mitochondrial Dysfunction in Vascular Disease, Tumorigenesis, and Diabetes.Frontiers in molecular biosciences · 2021Review
- The History of Gene Hunting in Hereditary Spinocerebellar Degeneration: Lessons From the Past and Future Perspectives.Frontiers in genetics · 2021Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionThe m.3243A > G mitochondrial DNA mutation is one of the most common mitochondrial disease-causing mutations, with a carrier rate as high as 1:400. This point mutation affects the MT-TL1 gene, ultimately affecting the oxidative phosphorylation system and the cell's energy production. Strikingly, the m.3243A > G mutation is associated with different phenotypes, including mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), maternally inherited diabetes and deafness (MIDD) and myopathy.
objectivesWe investigated urine metabolomes of MELAS, MIDD and myopathy patients in order to identify affected metabolic pathways and possible treatment options.
methodsA multiplatform metabolomics approach was used to comprehensively analyze the metabolome and compare metabolic profiles of different phenotypes caused by the m.3243A > G mutation. Our analytical array consisted of NMR spectroscopy, LC-MS/MS and GC-TOF-MS.
resultsThe investigation revealed phenotypic specific metabolic perturbations, as well as metabolic similarities between the different phenotypes. We show that glucose metabolism is highly disturbed in the MIDD phenotype, but not in MELAS or myopathy, remodeled fatty acid oxidation is characteristic of the MELAS patients, while one-carbon metabolism is strongly modified in both MELAS and MIDD, but not in the myopathy group. Lastly we identified increased creatine in the urine of the myopathy patients, but not in MELAS or MIDD.
conclusionWe conclude by giving novel insight on the phenotypes of the m.3243A > G mutation from a metabolomics point of view. Directives are also given for future investigations that could lead to better treatment options for patients suffering from this debilitating disease.
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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.