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Maternal trans-general analysis of the human mitochondrial DNA pattern
Xiao Han1, Zitong Zhao1, Minjie Zhang1
1Key Laboratory of Genomic and Precision Medicine, China Gastrointestinal Cancer Research Center, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China; University of Chinese Academy of Sciences, Beijing 100049, China.
Biochemical and Biophysical Research Communications
|September 4, 2017
Summary
Mitochondrial DNA (mtDNA) methylation is maternally inherited and linked to breast cancer. Aberrant mtDNA methylation sites in the D-loop region may serve as biomarkers for breast cancer risk prediction.
Area of Science:
- Genetics
- Epigenetics
- Oncology
Background:
- Mitochondrial DNA (mtDNA) methylation is associated with diseases like cancer.
- mtDNA is maternally inherited.
- The role of aberrant mtDNA methylation in breast cancer and its maternal transmission is unclear.
Purpose of the Study:
- To investigate the maternal inheritance of mtDNA methylation.
- To identify aberrant mtDNA methylation sites associated with breast cancer.
- To explore the potential of mtDNA methylation as a biomarker for breast cancer risk.
Main Methods:
- Bisulfite sequencing was used for global mtDNA methylation analysis.
- Whole genomic DNA methylation arrays were employed.
- Analysis was conducted on fifteen members from five three-generation families with breast cancer patients.
Main Results:
- Mitochondrial DNA methylation was confirmed to be maternally inherited in the D-loop region.
- Eight aberrant mtDNA methylation sites were found to correlate with breast cancer.
- Conjoint analysis indicated potential for combined mtDNA and nuclear DNA methylation biomarkers.
Conclusions:
- Mitochondrial DNA methylation exhibits maternal inheritance patterns.
- Specific aberrant mtDNA methylation sites are linked to breast cancer.
- Combined mtDNA and nuclear DNA methylation analysis shows promise for breast cancer risk prediction.
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