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

Paul de LaatRichard J RodenburgJan A M SmeitinkMirian C H Janssen

Published in: Molecular genetics & genomic medicine (2018)

Heteroplasmy 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.

Keyphrases

mitochondrial dna
end stage renal disease
copy number
chronic kidney disease
ejection fraction
prognostic factors
gene expression
case report
dna methylation