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Mitochondrial DNA Mutations and Epigenetic Regulation in Type 2 Diabetes Mellitus Development
Mei Xin Koh1, Timothy Simpson2, Shamsul Mohd Zain3
1School of Pharmacy, Faculty of Science and Engineering, University of Nottingham Malaysia, Semenyih, Selangor Darul Ehsan, Malaysia.
British Journal of Biomedical Science
|December 15, 2025
Summary
Mitochondrial DNA (mtDNA) mutations and methylation changes are linked to type 2 diabetes mellitus (T2DM). Specific mtDNA alterations may serve as biomarkers for T2DM diagnosis and prevention, though further research is needed.
Area of Science:
- Genetics
- Metabolic Diseases
- Mitochondrial Biology
Background:
- Global prevalence of type 2 diabetes mellitus (T2DM) is rising.
- Mitochondria, particularly mitochondrial DNA (mtDNA), are increasingly recognized for their role in T2DM pathogenesis.
- Genetic and lifestyle factors are known contributors, but mitochondrial involvement is a key area of research.
Purpose of the Study:
- To comprehensively review and analyze mitochondrial DNA (mtDNA) mutations and epigenetic modifications associated with type 2 diabetes mellitus (T2DM).
- To identify potential biomarkers for T2DM development and progression.
Main Methods:
- Systematic review of 30 published studies focusing on mtDNA mutations and epigenetic modifications in T2DM.
- Analysis of mutation hotspots and methylation patterns in relevant mtDNA regions.
Main Results:
- 117 mtDNA mutations were associated with T2DM, with the D-loop region identified as a hotspot.
- Mutations with lower occurrence in healthy populations may be more significant for T2DM susceptibility.
- mtDNA methylation was commonly observed in the D-loop and ND6 regions, suggesting regulatory roles in diabetic conditions.
Conclusions:
- mtDNA mutations and methylation changes show potential as biomarkers for T2DM.
- These molecular insights could aid in early diagnosis and preventive strategies.
- Further research and validation are crucial to confirm clinical significance and diagnostic utility.
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