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Methodology for Accurate Detection of Mitochondrial DNA Methylation
Published on: May 20, 2018
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Association between sperm mitochondarial DNA copy number and nuclear DNA methylation
Oladele A Oluwayiose1, Srinihaari Josyula1, Emily Houle1
1Department of Environmental Health Sciences, School of Public Health & Health Sciences, University of Massachusetts Amherst, 686 North Pleasant Street, Amherst, MA 01003, USA.
Epigenomics
|December 15, 2020
Summary
Sperm mitochondrial DNA copy number (mtDNAcn) is linked to male infertility. This study suggests DNA methylation influences sperm mtDNAcn levels, potentially revealing new insights into male reproductive health.
Area of Science:
- Reproductive biology
- Epigenetics
- Genomics
Background:
- Sperm mitochondrial DNA copy number (mtDNAcn) is associated with male infertility and reproductive outcomes.
- The underlying mechanisms regulating sperm mtDNAcn variation remain largely uncharacterized.
Purpose of the Study:
- To investigate the relationship between sperm mtDNAcn and genome-wide DNA methylation patterns.
- To explore the potential role of DNA methylation in regulating sperm mtDNAcn.
Main Methods:
- Sperm mtDNAcn was quantified using triplex probe-based quantitative PCR.
- Genome-wide DNA methylation was assessed using Illumina's 450K array in 47 men undergoing infertility treatment.
- Multivariable models were employed to analyze associations between sperm mtDNAcn and methylation profiles.
Main Results:
- An a priori candidate-gene analysis identified associations between sperm mtDNAcn and 16 CpGs near the POLG and TWNK genes.
- Unbiased genome-wide analysis revealed 218 differentially methylated regions in sperm associated with mtDNAcn (q < 0.05).
- The majority (94%) of these associations involved increased methylation levels.
Conclusions:
- The findings indicate a significant association between sperm DNA methylation patterns and sperm mtDNAcn.
- DNA methylation may play a regulatory role in determining sperm mtDNAcn, offering potential targets for understanding male infertility.
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