Mitochondrial DNA variants in the pathogenesis of type 2 diabetes - Relevance of asian population studies

Pei Wen Wang*, Tsu Kung Lin, Shao Wen Weng, Chia Wei Liou

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

24 Scopus citations


Mitochondrial dysfunction involves defective insulin secretion by pancreatic beta-cells, and insulin resistance in insulin-sensitive tissues such as muscle and adipose tissue. Mitochondria are recognized as the most important cellular source of energy, and the major generator of intracellular reactive oxygen species (ROS). Intracellular antioxidative systems have been developed to cope with increased oxidative damage. In case of minor oxidative stress, the cells may increase the number of mitochondria to produce more energy. A mechanism called mitochondrial biogenesis, involving several transcription factors and regulators, controls the quantity of mitochondria. When oxidative damage is advanced beyond the repair capacity of antioxidative systems, then oxidative stress can lead to cell death. Therefore, this organelle is central to cell life or death. Available evidence increasingly shows genetic linkage between mitochondrial DNA (mtDNA) alterations and type 2 diabetes (T2D). Based on previous studies, the mtDNA 16189 variant is associated with metabolic syndrome, higher fasting insulin concentration, insulin resistance index and lacunar cerebral infarction. These data support the involvement of mitochondrial genetic variation in the pathogenesis of T2D. Importantly, phylogeographic studies of the human mtDNAs have revealed that the human mtDNA tree is rooted in Africa and radiates into different geographic regions and can be grouped as haplogroups. The Asian populations carry very different mtDNA haplogroups as compared to European populations. Therefore, it is critically important to determine the role of mtDNA polymorphisms in T2D.

Original languageEnglish
Pages (from-to)237-246
Number of pages10
JournalReview of Diabetic Studies
Issue number4
StatePublished - 2009


  • Biosynthesis
  • Mitochondrial DNA
  • Phenotype
  • Reactive oxygen species
  • Type 2 diabetes


Dive into the research topics of 'Mitochondrial DNA variants in the pathogenesis of type 2 diabetes - Relevance of asian population studies'. Together they form a unique fingerprint.

Cite this