Mitochondrial Genome and Susceptibility to Diabetes Mellitus

A Common Mitochondrial DNA Variant and Increased Body Mass Index as Associated Factors for Development of Type 2 Diabetes: Additive Effects of Genetic and Environmental Factors

“…This rate is higher than the reported results for either DM or non-DM subjects from England and Korea and for Chinese people living in Beijing (8,10,11,17), but is similar to the report from Japan (18). These observations may reflect the fact that, although Taiwanese people historically originated mainly from China, interbreeding occurred over subsequent generations with aboriginals from southern China and others sharing similar genetic origins from the South Pacific region, which reports a high prevalence of mtDNA 16189 variant (19). Thus, the present results would be expected to be different from those in China.…”

mtDNA Single-Nucleotide Variants Associated with Type 2 Diabetes

“…The m.16189T>C (rs28693675) polymorphism, located in the noncoding region of mtDNA, specifically near the segment associated with termination in the hypervariable region (HVR1), has been linked to insulin resistance and a higher prevalence of T2D, particularly in Asian, Caucasian, and Chinese populations [80,81]. While this singlenucleotide polymorphism (SNP) is thought to play a direct role in the predisposition to T2D, it is important to note that the emergence or expression of pathological mtDNA mutations may be influenced by other SNPs in the mtDNA.…”

mtDNA Single Nucleotide Variants Associated with Type 2 Diabetes

“…The polymorphism m.16189T>C (rs386828865) near the segment associated with the termination in the non-coding region of mtDNA in the hypervariable region (HVR1) of mtDNA has a correlation with insulin resistance and with the prevalence of T2D reported mainly in Asian populations 28.8% and 37% in Koreans and Japanese, respectively; on the other hand, a wide variation was observed, from 10% in Alorese populations to 60% in Nia's populations and between 10% and 15% in Caucasians and a frequency of (Kwak & Park, 2016;Sudoyo et al, 2003).…”

“…The fact that the point mutation m.16189T>C can be significantly associated with diabetes in populations of Caucasian, Asian, and Chinese origin suggests that this single nucleotide polymorphism (SNP) probably plays a direct role in predisposition to T2D. However, there is increasing evidence that the generation or expression of pathological mtDNA mutations could be influenced by other SNPs in the mtDNA, for example, the mtDNA mutation m. 11778G>A for LHON, the mtDNA mutation m.1555A>G underlying sensorineural deafness inherited from the mother, and the additional mutation, m14709T>C in tRNAglu firmly classified as a causal mutation (Sudoyo et al, 2003).…”