The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific.

PubWeight™: 1.56‹?› | Rank: Top 4%

🔗 View Article (PMC 4326891)

Published in Aging Cell on December 17, 2013

Authors

Nicola Raule1, Federica Sevini, Shengting Li, Annalaura Barbieri, Federica Tallaro, Laura Lomartire, Dario Vianello, Alberto Montesanto, Jukka S Moilanen, Vladyslav Bezrukov, Hélène Blanché, Antti Hervonen, Kaare Christensen, Luca Deiana, Efstathios S Gonos, Tom B L Kirkwood, Peter Kristensen, Alberta Leon, Pier Giuseppe Pelicci, Michel Poulain, Irene M Rea, Josè Remacle, Jean Marie Robine, Stefan Schreiber, Ewa Sikora, Peternella Eline Slagboom, Liana Spazzafumo, Maria Antonietta Stazi, Olivier Toussaint, James W Vaupel, Giuseppina Rose, Kari Majamaa, Markus Perola, Thomas E Johnson, Lars Bolund, Huanming Yang, Giuseppe Passarino, Claudio Franceschi

Author Affiliations

1: BioPhysics and Biocomplexity and Department of Experimental Pathology, C.I. G. Interdepartmental Centre L. Galvani for Integrated Studies on Bioinformatics, University of Bologna, Bologna, 40126, Italy.

Articles citing this

Parkinson's disease as a result of aging. Aging Cell (2015) 0.92

Mitochondria hyperfusion and elevated autophagic activity are key mechanisms for cellular bioenergetic preservation in centenarians. Aging (Albany NY) (2014) 0.87

Modulation of mitochondrial complex I activity averts cognitive decline in multiple animal models of familial Alzheimer's Disease. EBioMedicine (2015) 0.85

The three genetics (nuclear DNA, mitochondrial DNA, and gut microbiome) of longevity in humans considered as metaorganisms. Biomed Res Int (2014) 0.84

Aging: A mitochondrial DNA perspective, critical analysis and an update. World J Exp Med (2014) 0.81

Human longevity: Genetics or Lifestyle? It takes two to tango. Immun Ageing (2016) 0.81

Mitochondrial genomes and exceptional longevity in a Chinese population: the Rugao longevity study. Age (Dordr) (2015) 0.80

Transmission from centenarians to their offspring of mtDNA heteroplasmy revealed by ultra-deep sequencing. Aging (Albany NY) (2014) 0.79

Fine Dissection of Human Mitochondrial DNA Haplogroup HV Lineages Reveals Paleolithic Signatures from European Glacial Refugia. PLoS One (2015) 0.78

Subdivisions of haplogroups U and C encompass mitochondrial DNA lineages of Eneolithic-Early Bronze Age Kurgan populations of western North Pontic steppe. J Hum Genet (2017) 0.77

Gender, aging and longevity in humans: an update of an intriguing/neglected scenario paving the way to a gender-specific medicine. Clin Sci (Lond) (2016) 0.77

Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy. PLoS One (2015) 0.77

Length heterogeneity at conserved sequence block 2 in human mitochondrial DNA acts as a rheostat for RNA polymerase POLRMT activity. Nucleic Acids Res (2016) 0.76

The influence of gender on inheritance of exceptional longevity. Aging (Albany NY) (2015) 0.75

Mitochondrial Haplogroup Influences Motor Function in Long-Term HIV-1-Infected Individuals. PLoS One (2016) 0.75

Erratum. Aging Cell (2015) 0.75

Conserved and species-specific molecular denominators in mammalian skeletal muscle aging. NPJ Aging Mech Dis (2017) 0.75

Articles cited by this

The diploid genome sequence of an Asian individual. Nature (2008) 46.29

Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet (2011) 18.88

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet (1999) 18.22

A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine. Annu Rev Genet (2005) 16.79

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum Mutat (2009) 9.66

Classification of European mtDNAs from an analysis of three European populations. Genetics (1996) 6.28

Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet (1997) 3.48

Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet (2003) 3.39

A high-performance computing toolset for relatedness and principal component analysis of SNP data. Bioinformatics (2012) 3.36

Mitochondrial DNA mutations in disease and aging. Environ Mol Mutagen (2010) 3.10

The role of mitochondria in aging. J Clin Invest (2013) 2.71

Human mtDNA haplogroups associated with high or reduced spermatozoa motility. Am J Hum Genet (2000) 2.64

Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans. FASEB J (1999) 2.61

Mitochondrial genotype associated with longevity. Lancet (1998) 2.58

Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics (1993) 2.39

Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am J Hum Genet (1997) 2.21

Mitochondrial DNA polymorphisms associated with longevity in a Finnish population. Hum Genet (2002) 2.00

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. Am J Hum Genet (2006) 1.95

Ancient mtDNA genetic variants modulate mtDNA transcription and replication. PLoS Genet (2009) 1.58

Mitochondrial DNA polymorphism: its role in longevity of the Irish population. Exp Gerontol (2001) 1.58

A mitochondrial DNA clone is associated with increased risk for Alzheimer disease. Proc Natl Acad Sci U S A (1995) 1.58

The role of mitochondrial DNA mutations and free radicals in disease and ageing. J Intern Med (2013) 1.42

Mitochondrial variants in schizophrenia, bipolar disorder, and major depressive disorder. PLoS One (2009) 1.36

Paradoxes in longevity: sequence analysis of mtDNA haplogroup J in centenarians. Eur J Hum Genet (2001) 1.36

Genome-wide linkage analysis for human longevity: Genetics of Healthy Aging Study. Aging Cell (2013) 1.33

Association of the mitochondrial DNA haplogroup J with longevity is population specific. Eur J Hum Genet (2004) 1.32

Differences of sperm motility in mitochondrial DNA haplogroup U sublineages. Gene (2005) 1.21

HAPLOFIND: a new method for high-throughput mtDNA haplogroup assignment. Hum Mutat (2013) 1.20

Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients. Am J Med Genet (1996) 1.16

Mitochondrial genotype associated with longevity and its inhibitory effect on mutagenesis. Mech Ageing Dev (2000) 1.14

Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J. Mol Biol Evol (2003) 1.13

Mitochondrial DNA mutations and ageing. Biochim Biophys Acta (2009) 1.08

Evidence for sub-haplogroup h5 of mitochondrial DNA as a risk factor for late onset Alzheimer's disease. PLoS One (2010) 1.06

Mitochondrial genotype associated with French Caucasian centenarians. Gerontology (1998) 1.06

Principal-component analysis for assessment of population stratification in mitochondrial medical genetics. Am J Hum Genet (2010) 1.02

Mitochondrial DNA involvement in human longevity. Biochim Biophys Acta (2006) 0.98

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. PLoS One (2012) 0.96

Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees. J Med Genet (2004) 0.96

Association of mitochondrial haplogroup J and mtDNA oxidative damage in two different North Spain elderly populations. Biogerontology (2008) 0.95

Design, recruitment, logistics, and data management of the GEHA (Genetics of Healthy Ageing) project. Exp Gerontol (2011) 0.95

Global DNA methylation levels are modulated by mitochondrial DNA variants. Epigenomics (2012) 0.93

The variability of the mitochondrial genome in human aging: a key for life and death? Int J Biochem Cell Biol (2002) 0.88

Are mitochondrial haplogroups associated with extreme longevity? A study on a Spanish cohort. Age (Dordr) (2011) 0.87

Mitochondrial function, mitochondrial DNA and ageing: a reappraisal. Biogerontology (2010) 0.87

Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very old. Neurobiol Aging (2013) 0.82

Articles by these authors

A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39

The diploid genome sequence of an Asian individual. Nature (2008) 46.29

De novo assembly of human genomes with massively parallel short read sequencing. Genome Res (2009) 45.91

A human gut microbial gene catalogue established by metagenomic sequencing. Nature (2010) 43.63

A draft sequence of the rice genome (Oryza sativa L. ssp. indica). Science (2002) 42.78

Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08

SOAPdenovo2: an empirically improved memory-efficient short-read de novo assembler. Gigascience (2012) 20.89

International network of cancer genome projects. Nature (2010) 20.35

Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet (2010) 17.38

Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature (2012) 16.13

SNP detection for massively parallel whole-genome resequencing. Genome Res (2009) 15.96

The sequence and de novo assembly of the giant panda genome. Nature (2009) 15.76

Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51

A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nat Genet (2006) 15.14

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet (2009) 14.86

Ageing populations: the challenges ahead. Lancet (2009) 13.42

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23

WEGO: a web tool for plotting GO annotations. Nucleic Acids Res (2006) 13.06

Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet (2009) 12.44

Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet (2008) 12.32

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet (2012) 12.10

A metagenome-wide association study of gut microbiota in type 2 diabetes. Nature (2012) 11.68

Sequencing of 50 human exomes reveals adaptation to high altitude. Science (2010) 11.27

Oncogene-induced senescence is a DNA damage response triggered by DNA hyper-replication. Nature (2006) 11.18

Histone deacetylase inhibitors and the promise of epigenetic (and more) treatments for cancer. Nat Rev Cancer (2006) 10.73

Demography. Broken limits to life expectancy. Science (2002) 10.65

Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet (2009) 10.34

Toward an integrated clinical, molecular and serological classification of inflammatory bowel disease: report of a Working Party of the 2005 Montreal World Congress of Gastroenterology. Can J Gastroenterol (2005) 10.16

Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet (2009) 9.45

The Collaborative Cross, a community resource for the genetic analysis of complex traits. Nat Genet (2004) 9.37

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23

Transcriptome and genome sequencing uncovers functional variation in humans. Nature (2013) 8.89

TreeFam: a curated database of phylogenetic trees of animal gene families. Nucleic Acids Res (2006) 8.83

XBP1 links ER stress to intestinal inflammation and confers genetic risk for human inflammatory bowel disease. Cell (2008) 8.43

Mucosal flora in inflammatory bowel disease. Gastroenterology (2002) 8.42

The genome of the cucumber, Cucumis sativus L. Nat Genet (2009) 8.19

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet (2011) 7.98

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94

Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med (2004) 7.91

The Genomes of Oryza sativa: a history of duplications. PLoS Biol (2005) 7.67

Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet (2012) 7.59

Open-source genomic analysis of Shiga-toxin-producing E. coli O104:H4. N Engl J Med (2011) 7.11

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet (2008) 6.97

Adalimumab for maintenance of clinical response and remission in patients with Crohn's disease: the CHARM trial. Gastroenterology (2006) 6.88

Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet (2008) 6.75

The tumor suppressor p53 regulates polarity of self-renewing divisions in mammary stem cells. Cell (2009) 6.64

TreeFam: 2008 Update. Nucleic Acids Res (2007) 6.63

A draft sequence for the genome of the domesticated silkworm (Bombyx mori). Science (2004) 6.62

Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet (2010) 6.49

Heritability of adult body height: a comparative study of twin cohorts in eight countries. Twin Res (2003) 6.43

Human SIR2 deacetylates p53 and antagonizes PML/p53-induced cellular senescence. EMBO J (2002) 6.37

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet (2009) 6.31

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet (2008) 6.26

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21

Adalimumab for induction of clinical remission in moderately to severely active ulcerative colitis: results of a randomised controlled trial. Gut (2011) 6.08

A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. Lancet (2010) 6.07

Methyltransferase recruitment and DNA hypermethylation of target promoters by an oncogenic transcription factor. Science (2002) 6.05

Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder. Nat Genet (2011) 5.73

Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree. Curr Biol (2009) 5.70

Single-cell exome sequencing reveals single-nucleotide mutation characteristics of a kidney tumor. Cell (2012) 5.62

Inflammaging and anti-inflammaging: a systemic perspective on aging and longevity emerged from studies in humans. Mech Ageing Dev (2006) 5.61

New loci associated with kidney function and chronic kidney disease. Nat Genet (2010) 5.58

Analyses of pig genomes provide insight into porcine demography and evolution. Nature (2012) 5.58

Biological and molecular heterogeneity of breast cancers correlates with their cancer stem cell content. Cell (2010) 5.57

Building the sequence map of the human pan-genome. Nat Biotechnol (2009) 5.53

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nat Genet (2010) 5.44

Natalizumab induction and maintenance therapy for Crohn's disease. N Engl J Med (2005) 5.36

The oyster genome reveals stress adaptation and complexity of shell formation. Nature (2012) 5.30

A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms. Nature (2004) 5.24

Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease. Circulation (2008) 5.20

Single-cell exome sequencing and monoclonal evolution of a JAK2-negative myeloproliferative neoplasm. Cell (2012) 5.16