A twin study of mitochondrial DNA polymorphisms shows that Heteroplasmy at multiple sites is associated with mtDNA variant 16093 but not with Zygosity

PLoS ONE

Volumn 6, Issue 8, 2011, Pages

  Andrew, Toby ^a   Calloway, Cassandra D ^b   Stuart, Sarah ^b   Lee, Sang Hoon ^b   Gill, Raj ^a   Clement, Gail ^a   Chowienczyk, Philip ^a   Spector, Tim D ^a   Valdes, Ana M ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b CHILDREN S HOSPITAL OAKLAND RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE; INSULIN; MITOCHONDRIAL DNA;

ADULT; AGE DISTRIBUTION; AGED; ARTICLE; BODY MASS; BOTTLENECK POPULATION; CONTROLLED STUDY; DINUCLEOTIDE REPEAT; DIZYGOTIC TWINS; DNA POLYMORPHISM; FEMALE; GENE CONTROL; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GLUCOSE BLOOD LEVEL; HETEROPLASMY; HUMAN; INSULIN BLOOD LEVEL; MONOZYGOTIC TWINS; PLACENTAL TRANSFER; TWIN ZYGOSITY; BLOOD; DIET RESTRICTION; GENETIC POLYMORPHISM; GENETICS; HAPLOTYPE; METABOLISM; MIDDLE AGED; MOUTH MUCOSA; MUTATION; NUCLEOTIDE SEQUENCE; STATISTICAL MODEL; TWINS;

ADULT; AGED; AGED, 80 AND OVER; BASE SEQUENCE; BLOOD GLUCOSE; BODY MASS INDEX; DINUCLEOTIDE REPEATS; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FASTING; FEMALE; HAPLOTYPES; HUMANS; INSULIN; LOGISTIC MODELS; MIDDLE AGED; MOUTH MUCOSA; MUTATION; POLYMORPHISM, GENETIC; TWINS, DIZYGOTIC; TWINS, MONOZYGOTIC;

EID: 79961034773     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0022332     Document Type: Article

References (28)

1. Jarrett SG, Lin H, Godley BF, Boulton ME, (2008) Mitochondrial DNA damage and its potential role in retinal degeneration. Prog Retin Eye Res 27: 596-607.
2. Shoubridge EA, Wai T, (2007) Mitochondrial DNA and the mammalian oocyte. Curr Top Dev Biol 77: 87-111.
3. Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, et al. (1981) Sequence and organization of the human mitochondrial genome. Nature 290 (5806): 457-65.
4. Aquadro CF, Greenberg BD, (1983) Human mitochondrial DNA variation and evolution: analysis of nucleotide sequences from seven individuals. Genetics 103: 287-312.
5. Yakes FM, Van Houten B, (1997) Mitochondrial DNA damage is more extensive and persists longer than nuclear DNA damage in human cells following oxidative stress. Proc Natl Acad Sci USA 94: 514-519.
6. Bandy B, Davison AJ, (1990) Mitochondrial mutations may increase oxidative stress: implications for carcinogenesis and aging? Free Radic Biol Med 8: 523-39.
7. Druzhyna NM, Wilson GL, LeDoux SP, (2008) Mitochondrial DNA repair in aging and disease. Mech Ageing Dev 129: 383-90.
8. Moosmann B, Behl C, (2008) Mitochondrially encoded cysteine predicts animal lifespan. Aging Cell 7: 32-46.
9. Feher J, Kovacs I, Artico M, Cavallotti C, Papale A, et al. (2006) Mitochondrial alterations of retinal pigment epithelium in age-related macular degeneration. Neurobiol Aging 27: 983-993.
10. Fukae J, Mizuno Y, Hattori N, (2007) Mitochondrial dysfunction in Parkinson's disease. Mitochondrion 7: 58-62.
11. Maruszak A, Gaweda-Walerych K, Soltyszewski I, Zekanowski C, (2006) Mitochondrial DNA in pathogenesis of Alzheimer's and Parkinson's diseases. Acta Neurobiol Exp 66: 153-176.
12. Sondheimer N, Glatz CE, Tirone JE, Deardorff MA, Krieger AM, et al. (2011) Neutral mitochondrial heteroplasmy and the influence of aging. Hum Mol Genet 20: 1653-9.
13. He Y, Wu J, Dressman DC, Iacobuzio-Donahue C, Markowitz SD, et al. (2010) Heteroplasmic mitochondrial DNA mutations in normal and tumour cells. Nature 464 (7288): 610-4.
14. Andrew T, Hart DJ, Snieder H, de Lange M, Spector TD, et al. (2001) Are twins and singletons comparable? A study of disease-related and lifestyle characteristics in adult women. Twin Res 4: 464-477.
15. Falchi M, Wilson SG, Paximadas D, Swaminathan R, Spector TD, (2008) Quantitative linkage analysis for pancreatic B-cell function and insulin resistance in a large twin cohort. Diabetes 2008;57 (4): 1120-4.
16. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, et al. (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23: 147.
17. Reynolds R, Walker K, Varlaro J, Allen M, Clark E, et al. (2000) Detection of sequence variation in the HVII region of the human mitochondrial genome in 689 individuals using immobilized sequence-specific oligonucleotide probes. J Forensic Sci 45: 1210-31.
18. StataCorp (2009) Stata Statistical Software: Release 11 College Station, TX StataCorp LP.
19. Hopper JL, (1998) Twin concordance. In: Armitage P, Colton T, editors. Encyclopedia of Biostatistics pp. 4626-4629 Wiley, New York.
20. Taylor RW, Turnbull DM, (2005) Mitochondrial DNA mutations in human disease. Nat Rev Genet 6: 389-402.
21. Witte JS, Carlin JB, Hopper JL, (1999) Likelihood-based approach to estimating twin concordance for dichotomous traits. Genetic Epidemiology 16: 290-304.
22. Thèves C, Keyser-Tracqui C, Crubézy E, Salles JP, Ludes B, et al. (2006) Detection and quantification of the age-related point mutation A189G in the human mitochondrial DNA. J Forensic Sci 51: 865-73.
23. Vermulst M, Bielas JH, Kujoth GC, Ladiges WC, Rabinovitch PS, et al. (2007) Mitochondrial point mutations do not limit the natural lifespan of mice. Nat Genet 39: 540-543.
24. Irwin JA, Saunier JL, Niederstätter H, Strouss KM, Sturk KA, et al. (2009) Investigation of heteroplasmy in the human mitochondrial DNA control region: a synthesis of observations from more than 5000 global population samples. J Mol Evol 68: 516-27.
25. Tully LA, Parsons TJ, Steighner RJ, Holland MM, Marino MA, et al. (2000) A sensitive denaturing gradient-Gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervariable region 1 of the human mtDNA control region. Am J Hum Genet 67: 432-43.
26. Schiff M, Bénit P, Coulibaly A, Loublier S, El-Khoury R, et al. (2011) Mitochondrial response to controlled nutrition in health and disease. Nutr Rev 69: 65-75.
27. Santos C, Sierra B, Alvarez L, Ramos A, Fernández E, et al. (2008) Frequency and pattern of heteroplasmy in the control region of human mitochondrial DNA. J Mol Evol 67: 191-200.
28. Calloway CD, Reynolds RL, Herrin GL Jr, Anderson WW, (2000) The frequency of heteroplasmy in the HVII region of mtDNA differs across tissue types and increases with age. Am J Hum Genet 66: 1384-97.