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Updated: Apr 4, 2026

Methodology for Accurate Detection of Mitochondrial DNA Methylation
Published on: May 20, 2018
Age-and gender-related pattern of methylation in the MT-RNR1 gene
Patrizia D'Aquila1, Marco Giordano1, Alberto Montesanto1
1Department of Biology, Ecology & Earth Science (DIBEST), University of Calabria, 87036 Rende, Italy.
Aim:
We evaluated the methylation of two CpG sites located within human mitochondrial 12S and 16S ribosomal RNA (MT-RNR1 and MT-RNR2) genes.
Materials & Methods:
Methylation was measured through bisulfite sequencing and qPCR assays on DNA samples collected from 381 differently aged human subjects.
Results:
Analyses revealed the methylation of the site in the MT-RNR1 gene and the co-presence of both unmethylated and methylated cytosines in most samples. High methylation levels (>10%) were more frequent in old women with respect to younger controls. A 9-year-long follow-up survey showed that subjects with high methylation levels exhibit a mortality risk significantly higher than subjects with low levels.
Conclusion:
Our data further support the presence of methylation within human mitochondrial DNA and suggest that high levels of methylation of the MT-RNR1 site may reflect a condition of the cell or of the organism unfavorable to survival.
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