Since we ﬁrst linked mtDNA mutations to Type II diabetes(T2DM) in a family study (Ballinger, S. et al., Nat. Genet. 1, 11–15), increasing evidence has accumulated implicating mtDNA variation in the etiology of T2DM and the metabolic syndrome (MS). Functional mtDNA variation includes both recent inherited mutations but also ancient adaptive polymorphisms encompassed within region-speciﬁc mtDNA lineages (haplogroups) (Ruiz-Pesini, E .et al.,2004. Science 303, 223–226). To determine if ancient mtDNA haplogroups might also inﬂuence risk for T2DM and MS, we studied 989 subjects from Taiwan which had been evaluated for T2DM & MS. Taiwan was selected because it encompasses a diverse array of Asian mtDNA haplogroups in a population exposed to a high calorie diet. Analysis of this population revealed that haplogroup F4 was strongly associated with obesity including increased waist circumference and BMI. Complete sequencing of several mtDNAs belonging to F4 haplogroup revealed lineage-speciﬁc polymorphisms which might contribute to increased risk of obesity. Hence, MS risk can be inﬂuenced by ancient regional mtDNA polymorphisms, which might help resolve deﬁnitional controversies of MS.
- Lvova, Maria A.; Derbeneva, Olga A.; Chalkia, Dimitra; Chuang, Lee-Ming; Wang, Ping H.; Chang, Yi-Cheng; Mishmar, Dan & Wallace, Douglas (2010). 117 Asian mitochondrial DNA (mtDNA) lineage F4 is associated with increased risk of developing metabolic syndrome. Mitochondrion, 10(2), 233.
Peoples: Asians | Places: Asia | Topics: Metabolic syndrome | DNA Type: mtDNA