The search of 'novel' mtDNA mutations in hypertrophic cardiomyopathy: MITOMAPping as a risk factor

International Journal of Cardiology

Volumn 126, Issue 3, 2008, Pages 439-442

  Bandelt, Hans Jürgen ^a   Yao, Yong Gang ^b   Salas, Antonio ^c,d  

^a UNIVERSITY OF HAMBURG   (Germany)

^b KUNMING INSTITUTE OF ZOOLOGY   (China)

^c Facultade de Medicina   (Spain)

^d Hospital Clinico Universitario   (Spain)

Author keywords

Haplogroup; Hypertrophic cardiomyopathy; Mitochondrial DNA mutation; MITOMAP; Noonan syndrome

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; DATA BASE; DNA POLYMORPHISM; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INTERNET; MEDICAL INFORMATION; NOONAN SYNDROME; PRIORITY JOURNAL; RISK FACTOR;

CARDIOMYOPATHY, HYPERTROPHIC; DATABASES, GENETIC; DNA, MITOCHONDRIAL; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; MALE; MUTATION; NOONAN SYNDROME; RISK FACTORS; SENSITIVITY AND SPECIFICITY; SEVERITY OF ILLNESS INDEX;

EID: 43049152835     PISSN: 01675273     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijcard.2007.02.049     Document Type: Article

References (39)

1. Salas A., Yao Y.-G., Macaulay V., Vega A., Carracedo Á., and Bandelt H.-J. A critical reassessment of the role of mitochondria in tumorigenesis. PLoS Med 2 (2005) e296
2. Bandelt H.-J., Salas A., and Bravi C.M. What is a 'novel' mtDNA mutation - and does 'novelty' really matter?. J Hum Genet 51 (2006) 1073-1082
3. Prasad G.N., Vanniarajan A., Emmanuel C., Cherian K.M., Singh L., and Thangaraj K. Novel mitochondrial DNA mutations in a rare variety of hypertrophic cardiomyopathy. Int J Cardiol 109 (2006) 432-433
4. Thangaraj K., Chaubey G., Singh V.K., et al. In situ origin of deep rooting lineages of mitochondrial macrohaplogroup M in India. BMC Genomics 7 (2006) 151
5. Dhandapany P.S., Sadayappan S., Vanniarajan A., et al. Novel mithochonrial DNA mutauions implicated in Noonan syndrome. Int J Cardiol 120 (2007) 284-285
6. Vanniarajan A., Nayak D., Reddy A.G., Singh L., and Thangaraj K. Clinical and genetic uniqueness in an individual with MELAS. Am J Med Genet Part B 141B (2006) 440-444
7. Sun C., Kong Q.-P., Palanichamy M.g., et al. The dazzling array of basal branches in the mtDNA macrohaplogroup M from India as inferred from complete genomes. Mol Biol Evol 23 (2006) 683-690
8. Palanichamy M.g., Sun C., Agrawal S., et al. Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia. Am J Hum Genet 75 (2004) 966-978
9. Herrnstadt C., Elson J.L., Fahy E., et al. Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences from the major African, Asian, and European haplogroups. Am J Hum Genet 70 (2002) 1152-1171
10. Parson TJ (unpublished). GenBank accession numbers: DQ304897, DQ304898, DQ304899, DQ304899, DQ304900, DQ304903, and DQ304987.
11. Martin A.M., Hammond E., Nolan D., et al. Accumulation of mitochondrial DNA mutations in human immunodeficiency virus-infected patients treated with nucleoside-analogue reverse-transcriptase inhibitors. Am J Hum Genet 72 (2003) 549-560
12. Trejaut JA, Loo J-H, Lin M (unpublished). GenBank accession number: EF093547.
13. Tanaka M., Cabrera V.M., González A.M., et al. Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genome Res 14 (2004) 1832-1850
14. Kivisild T., Shen P., Wall D.P., et al. The role of selection in the evolution of human mitochondrial genomes. Genetics 172 (2006) 373-387
15. Ingman M., and Gyllensten U. Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines. Genome Res 13 (2003) 1600-1606
16. Yamasoba T., Goto Y., Oka Y., Nishino I., Tsukuda K., and Nonaka I. Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene. Neuromuscul Disord 12 (2002) 506-512
17. Pereira L., Gonçalves J., Franco-Duarte R., et al. No evidence for an mtDNA role in sperm motility: data from complete sequencing of asthenozoospermic males. Mol Biol Evol 24 (2007) 868-874
18. Tanimoto H., Nishio H., Matsuo M., and Nibu K.-I. A novel mitochondrial mutation, 1556C>T, in a Japanese patient with streptomycin-induced tinnitus. Acta Otolaryngol 124 (2004) 258-261
19. Fischel-Ghodsian N. Genetic factors in aminoglycoside toxicity. Pharmacogenomics 6 (2005) 27-36
20. Ingman M., Kaessmann H., Pääbo S., and Gyllensten U. Mitochondrial genome variation and the origin of modern humans. Nature 408 (2000) 708-713
21. Kong Q.-P., Yao Y.-G., Sun C., Bandelt H.-J., Zhu C.-L., and Zhang Y.-P. Phylogeny of East Asian mitochondrial DNA lineages inferred from complete sequences. Am J Hum Genet 73 (2003) 671-676
22. Macaulay V., Hill C., Achilli A., et al. Single, rapid coastal settlement of Asia revealed by analysis of complete mitochondrial genomes. Science 308 (2005) 1034-1036
23. Coble M.D., Just R.S., O'Callaghan J.E., et al. Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. Int J Legal Med 118 (2004) 137-146
24. Finnilä S., Lehtonen M.S., and Majamaa K. Phylogenetic network for European mtDNA. Am J Hum Genet 68 (2001) 1475-1484
25. Malyarchuk B.A., Grzybowski T., Derenko M.V., Czarny J., and Miścicka-Śliwka D. Mitochondrial DNA diversity in the Polish Roma. Ann Hum Genet 70 (2006) 195-206
26. Rajkumar R., Banerjee J., Gunturi H.B., Trivedi R., and Kashyap V.K. Phylogeny and antiquity of M macrohaplogroup inferred from complete mt DNA sequence of Indian specific lineages. BMC Evol Biol 5 (2005) 26
27. Torroni A., Achilli A., Macaulay V., Richards M., and Bandelt H.-J. Harvesting the fruit of the human mtDNA tree. Trends Genet 22 (2006) 339-345
28. Kösel S., Grasbon-Frodl E.M., Mautsch U., et al. Novel mutations of mitochondrial complex I in pathologically proven Parkinson disease. Neurogenetics 1 (1998) 197-204
29. Zhao L., Young W.Y., Li R., et al. Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation. Biochem Biophys Res Commun 325 (2004) 1503-1508
30. Povalko N., Zakharova E., Rudenskaia G., et al. A new sequence variant in mitochondrial DNA associated with high penetrance of Russian Leber hereditary optic neuropathy. Mitochondrion 5 (2005) 194-199
31. Achilli A., Rengo C., Magri C., et al. The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet 75 (2004) 910-918
32. Maca-Meyer N., González A.M., Larruga J.M., Flores C., and Cabrera V.M. Major genomic mitochondrial lineages delineate early human expansions. BMC Genet 2 (2001) 13
33. Friedlaender J., Schurr T., Gentz F., et al. Expanding Southwest Pacific mitochondrial haplogroups P and Q. Mol Biol Evol 22 (2005) 1506-1517
34. Annunen-Rasila J., Finnilä S., Mykkanen K., et al. Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL. Neurogenetics 7 (2006) 185-194
35. Behar D.M., Metspalu E., Kivisild T., et al. The matrilineal ancestry of Ashkenazi jewry: portrait of a recent founder event. Am J Hum Genet 78 (2006) 487-497
36. Horai S., Hayasaka K., Kondo R., Tsugane K., and Takahata N. Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs. Proc Natl Acad Sci U S A 92 (1995) 532-536
37. Merriwether D.A., Hodgson J.A., Friedlaender F.R., et al. Ancient mitochondrial M haplogroups identified in the Southwest Pacific. Proc Natl Acad Sci U S A 102 (2005) 13034-13039
38. Wani A., Sharma N., Shouche Y.S., and Bapat S.A. Nuclear-mitochondrial genomic profiling reveals a pattern of evolution in epithelial ovarian tumor stem cells. Oncogene 25 (2006) 6336-6344
39. Petros J.A., Baumann A.K., Ruiz-Pesini E., et al. mtDNA mutations increase tumorigenicity in prostate cancer. Proc Natl Acad Sci U S A 102 (2005) 719-724