Intra-patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation.

ABSTRACT:

Background

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. 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.

Methods

Fifteen 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 Disea

SUBMITTER: de Laat P 

PROVIDER: S-EPMC6393655 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature