Mitochondrial transcription factors TFA, TFB1 and TFB2: A search for DNA variants/haplotypes and the risk of cardiac hypertrophy

Disease Markers

Volumn 25, Issue 3, 2008, Pages 131-139

  Alonso Montes, Cristina ^b   Castro, Mónica G ^b   Reguero, Julián R ^b   Perrot, Andreas ^c   Özcelik, Cemil ^c   Geier, Christian ^c   Posch, Maximilian G ^c   Morís, César ^b   Alvarez, Victoria ^b   Ruiz Ortega, Marta ^d,e   Coto, Eliecer ^a,b,e,f  

^a Genetica Molecular   (Spain)

^b HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^e Geendiab Grupo Espanol de Estud de la Nefropatia Diabetica Working Grp from the Span Soc of Nephrology   (Spain)

^f Instituto Reina Sofia de Investigacion Nefrologica   (Spain)

Author keywords

Cardiac hypertrophy; Mitochondria DNA; Mutations; Transcription factors

Indexed keywords

ADENINE; ARGININE; CYTOSINE; LYSINE; MITOCHONDRIAL DNA; MITOCHONDRIAL TRANSCRIPTION FACTOR TFA; MITOCHONDRIAL TRANSCRIPTION FACTOR TFB 1; MITOCHONDRIAL TRANSCRIPTION FACTOR TFB 2; THREONINE; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GERMANY; HAPLOTYPE; HEART LEFT VENTRICLE HYPERTROPHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPAIN;

MUS;

EID: 58149397990     PISSN: 02780240     EISSN: None     Source Type: Journal    
DOI: 10.1155/2008/575323     Document Type: Article

References (44)

1. V. Alvarez, A.I. Corao, E. Sánchez-Ferrero, L. De Mena et al., Mitochondrial transcription factor A (TFAM) gene variation in Parkinson's disease, Neurosci Lett 423 (2008), 79-82.
2. R. Anan, M. Nakagawa, M. Miyata, I. Higuchi, S. Nakao, M. Suehara, M. Osame and H. Tanaka, Cardiac involvement in mitochondrial diseases: a study of 17 patients with mitochondrial DNA defects, Circulation 91 (1995), 955-961.
3. D.K. Arnett, L. de las Fuentes and U. Broeckel, Genes for left ventricular hypertrophy, Curr Hypertens Rep 6 (2004), 36-41.
4. L.L. Bachinski and R. Roberts, Familial hypertrophic cardiomyopathy: diagnostic and therapeutic implications of recent genetic studies, Mol Med Today 2 (1996), 387-393.
5. G.S. Bleumink, A.F.C. Schut, M.C.J.M. Sturkenboom, J.W. Deckers, C.M. van Duijn and B.H.C. Stricker, Genetic polymorphisms and heart failure, Genet Med 6 (2004), 465-474.
6. N.D. Bonawitz, D.A. Clayton and G.S. Shadel, Initiation and beyond: multiple functions of the human mitochondrial transcription machinery, Mol Cell 24 (2006), 813-825.
7. M.G. Castro, C. Huerta, J.R. Reguero, M.I. Soto, E. Domenech, V. Alvarez, M. Gomez-Zaera, V. Nunes, P. Gonzalez, A. Corao and E. Coto, Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy, Int J Cardiol 112 (2006), 202-206.
8. M.G. Castro, F. Rodriguez-Pascual, N. Magan-Marchal, J.R. Reguero, C. Alonso-Montes, C. Moris, V. Alvarez, S. Lamas and E. Coto, Screening of the endothelin1 gene (EDN1) in a cohort of patients with essential left ventricular hypertrophy, Ann Hum Genet 71 (2007), 601-610.
9. J. Cotney, Z. Wang and G.S. Shadel, Relative abundance of the human mitochondrial transcription system and distinct roles for h-mtTFB1 and h-mtTFB2 in mitochondrial biogenesis and gene expression, Nucleic Acids Res 18 (2007), 1-13.
10. S. DiMaur and E. Schon, Mitochondrial respiratory-chain disases, N Engl J Med 348 (2003), 2656-2668.
11. M.I. Ekstrand, M. Falkenberg, A. Rantanen, C.B. Park, M. Gaspari, K. Hultenby, P. Rustin, C.M. Gustafsson and N.G. Larsson, Mitochondrial transcription factor A regulates mtDNA copy number in mammals, Hum Mol Genet 13 (2004), 935-944.
12. M. Falkenberg, M. Gaspari, A. Rantanen, A. Trifunovic, N.G. Larsson and C.M. Gustafsson, Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA, Nat Genet (2002), 289-294.
13. R.P. Fisher and D.A. Clayton, Purification and characterization of human mitochondrial transcription factor 1, Mol Cell Biol 8 (1988), 3496-3509.
14. C. Günther, K. von Hadeln, T. Müller-Thomsen, A. Alberici, G. Binetti and C. Hock et al., Possible association of mitochondrial transcription factor A (TFAM) genotype with sporadic Alzheimer disease, Neurosci Lett 369 (2004), 219-223.
15. H.L. Garstka, W.E. Schmitt, J. Schultz, B. Sogl et al., Import of mitochondrial transcription factor A (TFAM) into rat liver mitochondria stimulates transcription of mitochondrial DNA, Nucleic Acids Res 31 (2003), 5039-5047.
16. M. Gaspari, M. Falkenberg, N.G. Larsson and C.M. Gustafsson, The mitochondrial RNA polymerase contributes critically to promoter specificity in mammalian cells, EMBO J 23 (2004), 4606-4614.
17. T.R. Gaunt, S. Rodriguez and I.N.M. Day, Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool 'CubeX', BMC Bioinformatics 8 (2007), 428.
18. S.C. Ghivizzani, C.S. Madsen, M.R. Nelen, C.V. Ammini and W.W. Hauswirth, In organello footprint analysis of human mitochondrial DNA: human mitochondrial transcription factor A interactions at the origin of replication, Mol Cell Biol 14 (1994), 7717-7730.
19. K. Hattori, M. Tanaka, S. Sugiyama, T. Obayashi, T. Ito, T. Satake et al., Age-dependent increase in deleted mitochondrial DNA in the human heart: possible contributory factor in presbycardia, Am Heart J 121 (1991), 1735-1742.
20. S. Hofmann, M. Jaksch, R. Bezold, S. Mertens, S. Aholt, A. Paprotta and K.D. Gerbitz, Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease, Hum Mol Genet 6 (1997), 1835-1846.
21. R.H. Hsieh, J.Y. Li, C.Y. Pang and Y.H. Wei, A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy, J Biomed Sci 8 (2002), 328-335.
22. M. Ikeuchi, H. Matsusaka, D. Kang, S. Matsushima, T. Ide, T. Kubota et al., Overexpression of mitochondrial transcription factor a ameliorates mitochondrial deficiencies and cardiac failure after myocardial infarction, Circulation 112 (2005), 683-690.
23. D. Kang and N. Hamasaki, Mitochondrial transcription factor A in the maintenance of mitochondrial DNA, Ann NY Acad Sci 1042 (2005), 101-108.
24. D. Kang, S.H. Kim and N. Hamasaki, Mitochondrial transcription factor A (TFAM): roles in maintenance of mtDNA and cellular functions, Mitochondrion 7 (2007), 39-44.
25. BA. Kaufman, N. Durisic, J.M. Mativetsky, S. Costantino, M.A. Hancock, P. Grutter and E.A. Shoubridge, The mitochondrial transcription factor TFAM coordinates the assembly of multiple DNA molecules into nucleoid-like structures, Mol Biol Cell 18 (2007), 3225-3236.
26. I. Komuro and Y. Yazaki, Control of cardiac gene expression by mechanical stress, Annu Rev Physiol (1993), 55-75.
27. N.G. Larsson, J. Wang, H. Wilhelmsson, A. Oldfors, P. Rustin, M. Lewandoski, G.S. Barsh and D.A. Clayton, Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice, Nat Genet 18 (1998), 231-236.
28. H. Li, J. Wang, H. Wilhelmsson, A. Hansson, P. Thoren, J. Duffy, P. Rustin and N.G. Larsson, Genetic modification of survival in tissue-specific knockout mice with mitochondrial cardiomyopathy, Proc Natl Acad Sci USA 97 (2000), 3467-3472.
29. B.H. Lorell and B.A. Carabello, Left ventricular hypertrophy: pathogenesis, detection, and prognosis, Circulation 102 (2000), 470-479.
30. A.J. Marian and R. Roberts, Recent advances in the molecular genetics of hypertrophic cardiomyopathy, Circulation 92 (1995), 1336-1347.
31. V. McCulloch, B.L. Seidel-Rogol and G.S. Shadel, A human mitochondrial transcription factor is related to RNA adenine methyltransferases and binds S-adenosylmethionine, Mol Cell Biol 22 (2002), 1116-1125.
32. V. McCulloch and G.S. Shadel, Human mitochondrial transcription factor B1 interacts with the C-terminal activation region of h-mtTFA and stimulates transcription independently of its RNA methyltransferasa activity, Mol Cell Biol 23 (2003), 5816-5824.
33. T. Obayashi, K. Hattori, S. Sugiyama, M. Tanaka, T. Tanaka, S. Itoyama et al., Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy, Am Heart J 124 (1992), 1263-1269.
34. K. Ohgaki, T. Kanki, A. Fukuoh, H. Kurisaki, Y. Aoki, M. Ikeuchi et al., The C-terminal tail of mitochondrial transcription factor A markedly strengthens its general binding to DNA, J Biochem 141 (2007), 201-211.
35. C.A. Piantadosi and H.B. Suliman, Mitochondrial transcription factor A induction by redox activation of nuclear respiratory factor 1, J Biol Chem 281 (2006), 324-333.
36. J. Sadoshima and S. Izumo, The cellular and molecular response of cardiac myocytes to mechanical stress, Annu Rev Physiol 59 (1997), 551-571.
37. R.C. Scarpulla, Nuclear activators and coactivators in mammalian mitochondrial biogenesis, Biochim Biophys Acta 1576 (2002), 1-14.
38. K. Schwartz, L. Carrier, P. Guicheney and M. Komajda, Molecular basis of familial cardiomyopathies, Circulation 91 (1995), 532-540.
39. B.L. Seidel-Rogol, V. McCulloch and G.S. Shadel, Human mitocondrial transcription factor B1 methylates ribosomal RNA at a conserved stem loop, Nat Genet 33 (2003), 23-24.
40. G. Silvestri, F.M. Santorelli, S. Shanske, C.B. Whitley, L.A. Schimmenti, S.A. Smith and S. DiMauro, A new DNA mutation in the tRNA leu (UUR) gene associated with maternally inherited cardiomyopathy, Hum Mutat 3 (1994), 37-43.
41. S. Sugiyama, K. Hattori, M. Hayakawa, T. Ozawa, Quantitative analysis of age-associated accumulation of mitochondrial DNA with deletion in human hearts, Biochem Biophys Res Commun 180 (1991), 894-899.
42. J. Wang, H. Wilhelmsson, C. Graff, H. Li, A. Oldfors, P. Rustin et al., Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression, Nat Genet 21 (1999), 133-137.
43. A. Wredenberg, R. Wibom, H. Wilhelmsson, C. Graff, H.H. Wiener, S.J. Burden et al., Increased mitochondrial mass in mitochondrial myopathy mice, Proc Natl Acad Sci USA 99 (2002), 15066-15071.
44. M. Zeviani, C. Gellera, C. Antozzi, M. Rimoldi, L. Morandi, F. Villani, V. Tiranti and S. DiDonato, Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA leu, Lancet 338 (1991), 143-147.