Mitochondrial ATPase Subunit 6 and Cytochrome b Gene Polymorphisms in Young Obese Adults

Identification of Native American Founder mtDNAs Through the Analysis of Complete mtDNA Sequences: Some Caveats

“…This association between control region motifs and cytochrome b motifs was not disrupted by artificial recombination that affected other sequences from this data set (for example, sequences H81, H98, F531.2). These three mutations in the cytochrome b gene (MT-CYB) are also jointly observed in seven mtDNAs sampled from Japan (Fuku et al 2002;Tanaka et al 2002; note that both studies overlap in 96 Cytb sequences of young obese adults, without cross-reference). Further analysis of the G haplotype (16223-16325-16362) from Inner Mongolia, China, confirms the presence of the three MTCYB mutations ( Table 2).…”

“…Further analysis of the G haplotype (16223-16325-16362) from Inner Mongolia, China, confirms the presence of the three MTCYB mutations ( Table 2). Two of these mutations (at nt 15323 and 15497), but not the third (15860), also appear in the complete mtDNA sequence designated as 7g of Mishmar et al (2003), as well as in two MTCYB sequences reported in Fuku et al (2002) and Tanaka et al (2002), two of which additionally share a transition at nt 14490. The former complete mtDNA sequence carries the transitions at nt 16017 and 16129 previously detected in haplogroup G mtDNAs of Koryaks and Itel'men (Schurr et al 1999).…”

“…From other studies, one sub-branch of B4c can be identified on the basis of HVS-I variation; viz, a transition at nt 16147 that occurs both in Central Asian mtDNAs (Comas et al 1998;Ingman et al 2000) and in two individuals of Dai descent from Yunnan Province, China . B4c also occurs in Japan as inferred from a polymorphism at nt 15346 (Fuku et al 2002;Tanaka et al 2002). Future screening of haplogroup B sequences that are directly drawn from Native American populations should allow us to conclude with more certainty whether B4c sequences contributed to the set of Native American founder mtDNAs.…”

“…On the other hand, the fact that the former five sites did not mutate in these over 900 published coding region sequences does of course not preclude the possibility of (single) rare recurrent events. Fuku et al (2002), for example, found 8701 mutated in a specific (but as yet unknown) sub-clade of haplogroup M (comprising five mtDNAs) that is associated with a transition at site 15518.…”

Women With Mitochondrial Haplogroup N9a Are Protected Against Metabolic Syndrome

“…In earlier studies we aimed to identify mitochondrial single nucleotide polymorphisms (mtSNPs) associated with age-related conditions, such as longevity (9), Parkinson's disease (10,11), and Alzheimer's disease, with those related to energy metabolism, such as obesity (12), thinness (13), and type 2 diabetes (12), or with atherosclerosis. For this purpose, we sequenced the entire mitochondrial genome of 672 individuals (14).…”