Intra ‐patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A > G mutation
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.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Paul de Laat,
Richard J. Rodenburg,
Jan A. M. Smeitink,
Mirian C. H. Janssen Tags: ORIGINAL ARTICLE Source Type: research