ArticleMolecular genetics & genomic medicine2019
Intra-patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Age-dependent accumulation of mitochondrial tRNA mutations in mouse kidneys linked to mitochondrial kidney diseases.Nature aging · 2025Article
- Analysis of Mutational Burden of Mitochondrial Genome in Cells of Different Human Organs and Tissues.Current medicinal chemistry · 2025Review
- A retrospective cohort study evaluating pregnancy outcomes in women with MIDD.Acta diabetologica · 2024Article
- The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity.Journal of neuromuscular diseases · 2024Article
- Optimal Estimate for Energy Requirements in Adult Patients With the m.3243A>G Mutation in Mitochondrial DNA.JPEN. Journal of parenteral and enteral nutrition · 2021Article
- Intra-patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation.Molecular genetics & genomic medicine · 2019Article
- Screening for Maternally Inherited Diabetes and Deafness in Large Cohorts of Hearing Impaired and Diabetic Patients.Ear and hearingArticle
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4 authors.
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Abstract
backgroundThe mitochondrial DNA m.3243A>G mutation is one the most prevalent mutation causing mitochondrial disease in adult patients. Several cohort studies have used heteroplasmy levels in urinary epithelial cells (UEC) to correlate the genotype of the patients to the clinical severity. However, the interpretation of these data is hampered by a lack of knowledge on the intra-patient variability of the heteroplasmy levels. The goal of this study was to determine the day-to-day variation of the heteroplasmy levels in UEC.
methodsFifteen carriers of the m.3243A>G mutation collected five urine samples in a 14-day window. Heteroplasmy levels of the m.3243A>G mutation were determined in these samples. Data from the national cohort study, including Newcastle Mitochondrial Disease Adult Scale scores and clinical diagnosis, were used.
resultsIn the samples of six patients, heteroplasmy levels were within a 5% margin. In the samples collected from five patients, the margin was >20%.
conclusionHeteroplasmy levels of UEC in carriers of the m.3243A>G mutation have a significant day-to-day variation. The interpretation of a correlation between heteroplasmy levels in urine and disease severity is therefore not reliable. Therefore, heteroplasmy levels in UEC should not be used as a prognostic biomarker in these patients.
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