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.
Highlights
The mitochondrial DNA m.3243A>G mutation is one the most prevalent mutation causing mitochondrial disease in adult patients
We demonstrated that the measurement of m.3243A>G heteroplasmy levels in urinary epithelial cells (UEC) might have a substantial intra‐patient day‐to‐day variability
We show that UEC m.3243A>G heteroplasmy levels within one patient might show important day‐
Summary
The 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. The interpretation of these data is hampered by a lack of knowledge on the intra‐patient variability of the heteroplasmy levels.
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