Mitochondrial cardiomyopathies: How to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny

European Journal of Human Genetics

Volumn 19, Issue 2, 2011, Pages 200-207

  Zaragoza, Michael V ^a,b   Brandon, Martin C ^a   Diegoli, Marta ^b   Arbustini, Eloisa ^b   Wallace, Douglas C ^a,c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

cardiomyopathies; genetic databases; genetic variation; mitochondria; phylogeny

Indexed keywords

AMINO ACID; CO1 PROTEIN; CYB PROTEIN; CYSTEINE; GENE PRODUCT; GLYCINE; MITOCHONDRIAL DNA; THREONINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CARDIOMYOPATHY; CHILD; CLINICAL ARTICLE; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CONSERVATION; GENETIC VARIABILITY; HAPLOIDY; HETEROPLASMY; HISTOPATHOLOGY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; ITALY; MALE; MITOCHONDRIAL CARDIOMYOPATHY; MITOCHONDRIAL MYOPATHY; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PATHOGENICITY; PHYLOGENY; PRESCHOOL CHILD; PRIORITY JOURNAL; RISK FACTOR; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; CARDIOMYOPATHIES; CHILD; DATABASES, GENETIC; DNA, MITOCHONDRIAL; ECHOCARDIOGRAPHY; FEMALE; GENES, MITOCHONDRIAL; GENETIC VARIATION; HUMANS; INFANT; ITALY; MALE; MIDDLE AGED; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION; PEDIGREE; PHYLOGENY; SEQUENCE ANALYSIS, DNA;

EID: 78651404845     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.169     Document Type: Article

References (36)

1. Wallace DC, Brown MD, Lott MT: Mitochondrial DNA variation in human evolution and disease. Gene 1999; 238: 211-230.
2. Marin-Garcia J, Goldenthal MJ: Cardiomyopathy and abnormal mitochondrial function. Cardiovasc Res 1994; 28: 456-463.
3. Anderson S, Bankier AT, Barrell BG et al: Sequence and organization of the human mitochondrial genome. Nature 1981; 290: 457-465.
4. Wallace DC: A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine. Ann Rev Genet 2005; 39: 359-407.
5. Brega A, Narula J, Arbustini E: Functional, structural, and genetic mitochondrial abnormalities in myocardial diseases. J Nucl Cardiol 2001; 8: 89-97.
6. Obayashi T, Hattori K, Sugiyama S et al: Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy. Am Heart J 1992; 124: 1263-1269.
7. Li YY, Maisch B, Rose ML, Hengstenberg C: Point mutations in mitochondrial DNA of patients with dilated cardiomyopathy. J Mol Cell Cardiol 1997; 29: 2699-2709.
8. Arbustini E, Diegoli M, Fasani R et al: Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy. Am J Pathol 1998; 153: 1501-1510.
9. AnanR,NakagawaM,MiyataMet al: Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation 1995; 91: 955-961.
10. Vilarinho L, Santorelli FM, Rosas MJ, Tavares C, Melo-Pires M, DiMauro S: The mitochondrial A3243G mutation presenting as severe cardiomyopathy. J Med Genet 1997; 34: 607-609.
11. Goto Y, Nonaka I, Horai S: A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990; 348: 651-653.
12. Manouvrier S, Rö tig A, Hannebique G et al: Point mutation of the mitochondrial tRNA(Leu) gene (A3243G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness. J Med Genet 1995; 32: 654-656.
13. Zeviani M, Gellera C, Antozzi C et al: Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR). Lancet 1991; 338: 143-147.
14. Nan DN, Fernández-Ayala M, Infante J, Matorras P, González-Macías J: Progressive cardiomyopathy as manifestation of mitochondrial disease. Postgrad Med J 2002; 78: 298-299.
15. Marin-Garcia J, Goldenthal MJ, Ananthakrishnan R, Pierpont ME: The complete sequence of mtDNA genes in idiopathic dilated cardiomyopathy shows novel missense and tRNA mutations. J Card Fail 2000; 6: 321-329.
16. Ruppert V, Nolte D, Aschenbrenner T, Pankuweit S, Funck R, Maisch B: Novel point mutations in the mitochondrial DNA detected in patients with dilated cardiomyopathy by screening the whole mitochondrial genome. Biochem Biophys Res Commun 2004; 318: 535-543.
17. Schrijver I, Pique LM, Traynis I, Scharfe C, Sehnert AJ: Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy. Genet Med 2009; 11: 118-126.
18. Johnson MJ, Wallace DC, Ferris SD, Rattazzi MC, Cavalli-Sforza LL: Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns. J Mol Evol 1983; 19: 255-271.
19. Merriwether DA, Clark AG, Ballinger SW et al: The structure of human mitochondrial DNA variation. J Mol Evol 1991; 33: 543-555.
20. Mishmar D, Ruiz-Pesini E, Golik P et al: Natural selection shaped regional mtDNA variation in humans. Proc Natl Acad Sci USA 2003; 100: 171-176.
21. Ruiz-Pesini E, Mishmar D, Brandon M, Procaccio V, Wallace DC: Effects of purifying and adaptive selection on regional variation in human mtDNA. Science 2004; 303: 223-226.
22. van Oven M, Kayser M: Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum Mutat 2009; 30: E386-E394. http:// www.phylotree.org.
23. Brandon MC, Ruiz-Pesini E, Mishmar D et al: MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences. Hum Mutat 2009; 30: 1-6.
24. Arbustini E, Fasani R, Morbini P et al: Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. Heart 1998; 80: 548-558.
25. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N: Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 1999; 23: 147.
26. Pereira L, Freitas F, Fernandes V et al: The diversity present in 5140 human mitochondrial genomes. Am J Hum Genet 2009; 84: 628-640.
27. Manolio TA, Collins FS, Cox NJ et al: Finding the missing heritability of complex diseases. Nature 2009; 461: 747-753.
28. MITOMAP. website: http://www.mitomap.org date accessed November 2009.
29. Torroni A, Wallace DC: Mitochondrial DNA variation in human populations and implications for detection of mtDNA mitochondrial DNA mutations of pathological significance. J Bioenerg Biomembr 1994; 26: 261-271.
30. Ruiz-Pesini E, Lott MT, Procaccio V et al: An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res 2007; 35: D823-D828.
31. Jun AS, Brown MD, Wallace DC: A mitochondrial DNA mutation at nucleotide pair .14459. of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci USA 1994; 91: 6206-6210.
32. Jun AS, Trounce IA, Brown MD, Shoffner JM, Wallace DC: Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNAencoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. Mol Cell Biol 1996; 16: 771-777.
33. Costa-Guda J, Tokura T, Roth SI, Arnold A: Mitochondrial DNA mutations in oxyphilic and chief cell parathyroid adenomas. BMC Endocr Disord 2007; 7: 8.
34. Parr RL, Dakubo GD, Crandall KA et al: Somatic mitochondrial DNA mutations in prostate cancer and normal appearing adjacent glands in comparison to age-matched prostate samples without malignant histology. J Mol Diagn 2006; 8: 312-319.
35. Vives-Bauza C, Andreu AL, Manfredi G et al: Sequence analysis of the entire mitochondrial genome in Parkinson¢s disease. Biochem Biophys Res Comm 2002; 290: 1593-1601.
36. Ionita-Laza I, Lange C, M Laird N: Estimating the number of unseen variants in the human genome. Proc Natl Acad Sci USA 2009; 106: 5008-5013.