Golden mean to longevity: Rareness of mitochondrial cytochrome <i>b</i> variants in centenarians but not in patients with Parkinson's disease

Tanaka, Masashi; Fuku, Noriyuki; Takeyasu, Takeshi; Guo, Li; Hirose, Raita; Kurata, Miyuki; Borgeld, Harm Jan W.; Yamada, Yoshiji; Maruyama, Wakako; Arai, Yasumichi; Hirose, Nobuyoshi; Oshida, Yoshiharu; Sato, Yuzo; Mizuno, Yoshikuni; Iwata, So; Yagi, Kazuichi

doi:10.1002/jnr.10444

Cited by 23 publications

(7 citation statements)

References 12 publications

(14 reference statements)

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“…We previously reported the absence of certain mtDNA variants in centenarians and their presence in patients with Parkinson's disease. 34 These findings imply that these variants are not beneficial for long-term survival but appear to predispose individuals to certain adult-onset diseases, and that centenarians are genetically hitting the golden mean. In the present study, the association between subhaplogroup D4e and elite EMA status could be explained by improved mitochondrial function through the absence of non-synonymous variants in subhaplogroup D4e.…”

Section: Discussionmentioning

confidence: 99%

Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes: a case–control study

et al. 2013

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The purpose of the present study was to identify mitochondrial DNA (mtDNA) polymorphisms and rare variants that associate with elite Japanese athletic status. Subjects comprised 185 elite Japanese athletes who had represented Japan at international competitions (that is, 100 endurance/middle-power athletes: EMA; 85 sprint/power athletes: SPA) and 672 Japanese controls (CON). The entire mtDNA sequences (16 569 bp) were analyzed by direct sequencing. Nucleotide variants were detected at 1488 sites in the 857 entire mtDNA sequences. A total of 311 variants were polymorphisms (minor allele frequency 1% in CON), and the frequencies of these polymorphisms were compared among the three groups. The EMA displayed excess of seven polymorphisms, including subhaplogroup D4e2- and D4g-specific polymorphisms, compared with CON (P<0.05), whereas SPA displayed excess of three polymorphisms and dearth of nine polymorphisms, including haplogroup G- and subhaplogroup G2a-specific polymorphisms, compared with CON (P<0.05). The frequencies of 10 polymorphisms, including haplogroup G- and subhaplogroup G2a-specific polymorphisms, were different between EMA and SPA (P<0.05): although none of these polymorphisms differed significantly between groups after correcting for multiple comparison (false discovery rate q-value 0.05). The number of rare variants in the 12S ribosomal RNA and NADH dehydrogenase subunit I genes were also higher in SPA than in CON (P<0.05). Analysis of the entire mtDNA of elite Japanese athletes revealed several haplogroup- and subhaplogroup-specific polymorphisms to be potentially associated with elite Japanese athletic status.

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Section: Discussionmentioning

confidence: 99%

Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes: a case–control study

et al. 2013

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“…We detected a novel mtDNA nucleotide variation: polymorphism of mtDNA 15497 guanine/adenine (Mt15497G→A). Although Mt15497G→A leads to the Gly251Ser amino acid replacement on human cytochrome b, it is unknown whether a functional alteration of the mitochondrion is induced by the Gly251Ser replacement (Tanaka et al 2002). Therefore, to elucidate an association between the Mt15497G→A polymorphism and obesity, we examined a relatively large sample size of middle-aged to elderly Japanese individuals comparing body size, body composition, and regional body fat distribution of subjects carrying the G or A alleles of Mt15497.…”

Section: Introductionmentioning

confidence: 99%

Association of the mitochondrial DNA 15497G/A polymorphism with obesity in a middle-aged and elderly Japanese population

Okura

Koda

Ando³

et al. 2003

Human Genetics

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Although polymorphism of the mitochondrial DNA 15497guanine/adenine (Mt15497G-->A) leads to the Gly251Ser amino acid replacement on human cytochrome b, it is unknown whether functional alteration of the mitochondrion is induced by the Gly251Ser replacement. To see if an association exists between the Mt15497G-->A polymorphism and obesity, we examined differences in body size, body composition, and regional body fat distribution between the two genotypes in middle-aged and elderly Japanese individuals (825 women and 906 men). The Mt15497 genotype was determined with an automated colorimetric allele-specific DNA probe assay system using the polymerase chain reaction (PCR) method. The Mt15497G-->A polymorphism was detected in 3.5% ( n=60) of all subjects: 2.8% ( n=23) among women and 4.1% ( n=37) among men. After adjusting for age and smoking, we found that body weight, body mass index, waist and hip circumferences, fat mass, fat-free mass, intra-abdominal fat and triglycerides were significantly greater in women with the A allele compared with the G allele ( p=0.001-0.025). For men, waist to hip ratio was significantly greater ( p=0.032), and waist circumference, intra-abdominal fat and triglycerides had a trend to be significantly greater ( p=0.062-0.087) in subjects with the A allele compared with the G allele. These data suggest that the Mt15497 polymorphism may be associated with obesity-related variables and lipid metabolism.

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“…For instance, mtDNA mutations impacting mitochondrial function and ATP production link with abnormal insulin release and b-cell development, insulin resistance, and diabetes (Poulton et al, 1998;Silva et al, 2000;Kaufman et al, 2015). In this context, Tanaka et al (2002) demonstrated that single nucleotide polymorphisms in mtDNA (mtSNPs) may result in decreased energy expenditure, leading to obesity. Moreover, several studies have associated mtSNPs with type II diabetes and obesity (Rivera et al, 1999;Fuku et al, 2002;Okura et al, 2003;Guo et al, 2005).…”

Section: Transmission Of Metabolic Diseases Linked To Mitochondria Dymentioning

confidence: 99%

Maternal transmission of mitochondrial diseases

et al. 2020

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Given the major role of the mitochondrion in cellular homeostasis, dysfunctions of this organelle may lead to several common diseases in humans. Among these, maternal diseases linked to mitochondrial DNA (mtDNA) mutations are of special interest due to the unclear pattern of mitochondrial inheritance. Multiple copies of mtDNA are present in a cell, each encoding for 37 genes essential for mitochondrial function. In cases of mtDNA mutations, mitochondrial malfunctioning relies on mutation load, as mutant and wild-type molecules may co-exist within the cell. Since the mutation load associated with disease manifestation varies for different mutations and tissues, it is hard to predict the progeny phenotype based on mutation load in the progenitor. In addition, poorly understood mechanisms act in the female germline to prevent the accumulation of deleterious mtDNA in the following generations. In this review, we outline basic aspects of mitochondrial inheritance in mammals and how they may lead to maternally-inherited diseases. Furthermore, we discuss potential therapeutic strategies for these diseases, which may be used in the future to prevent their transmission.

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Golden mean to longevity: Rareness of mitochondrial cytochrome b variants in centenarians but not in patients with Parkinson's disease

Cited by 23 publications

References 12 publications

Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes: a case–control study

Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes: a case–control study

Association of the mitochondrial DNA 15497G/A polymorphism with obesity in a middle-aged and elderly Japanese population

Maternal transmission of mitochondrial diseases

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