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Volumn 27, Issue 6, 2006, Pages 575-582

m.6267G > A: A recurrent mutation in the human mitochondrial DNA that reduces cytochrome C oxidase activity and is associated with tumors

Author keywords

Cancer; COX; Mitochondrial DNA; mtDNA; OXPHOS

Indexed keywords

ALANINE; CYTOCHROME C OXIDASE; GALACTOSE; MITOCHONDRIAL DNA; THREONINE;

EID: 33744981185     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20338     Document Type: Article
Times cited : (54)

References (49)
  • 6
    • 0032528315 scopus 로고    scopus 로고
    • Automated detection of point mutations using fluorescent sequence trace subtraction
    • Bonfield JK, Rada C, Staden R. 1998. Automated detection of point mutations using fluorescent sequence trace subtraction. Nucleic Acids Res 26:3404-3409.
    • (1998) Nucleic Acids Res , vol.26 , pp. 3404-3409
    • Bonfield, J.K.1    Rada, C.2    Staden, R.3
  • 7
    • 0031034482 scopus 로고    scopus 로고
    • Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage
    • Brown MD, Sun F, Wallace DC. 1997. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am J Hum Genet 60:381-387.
    • (1997) Am J Hum Genet , vol.60 , pp. 381-387
    • Brown, M.D.1    Sun, F.2    Wallace, D.C.3
  • 8
    • 2942531063 scopus 로고    scopus 로고
    • Mitochondrial defects in cancer
    • Carew JS, Huang P. 2002. Mitochondrial defects in cancer. Mol Cancer 1:9.
    • (2002) Mol Cancer , vol.1 , pp. 9
    • Carew, J.S.1    Huang, P.2
  • 9
    • 0043029566 scopus 로고    scopus 로고
    • P Mitochondrial DNA mutations in primary leukemia cells after chemotherapy: Clinical significance and therapeutic implications
    • Carew JS, Zhou Y, Albitar M, Carew JD, Keating MJ, Huang. 2003. P Mitochondrial DNA mutations in primary leukemia cells after chemotherapy: clinical significance and therapeutic implications. Leukemia 17:1437-1447.
    • (2003) Leukemia , vol.17 , pp. 1437-1447
    • Carew, J.S.1    Zhou, Y.2    Albitar, M.3    Carew, J.D.4    Keating, M.J.5    Huang6
  • 10
    • 0037180245 scopus 로고    scopus 로고
    • Accumulation of mitochondrial DNA mutations in ageing, cancer and mitochondrial disease: Is there a common mechanism?
    • Chinnery PF, Samuels DC, Elson J, Turnbull DM. 2002. Accumulation of mitochondrial DNA mutations in ageing, cancer and mitochondrial disease: is there a common mechanism? Lancet 360:1323-1325.
    • (2002) Lancet , vol.360 , pp. 1323-1325
    • Chinnery, P.F.1    Samuels, D.C.2    Elson, J.3    Turnbull, D.M.4
  • 12
    • 3242753586 scopus 로고    scopus 로고
    • The bioenergetic signature of lung adenocarcinomas is a molecular marker of cancer diagnosis and prognosis
    • Cuezva JM, Chen G, Alonso AM, Isidoro A, Misek DE, Hanash SM, Beer DG. 2004. The bioenergetic signature of lung adenocarcinomas is a molecular marker of cancer diagnosis and prognosis. Carcinogenesis 25:1157-1163.
    • (2004) Carcinogenesis , vol.25 , pp. 1157-1163
    • Cuezva, J.M.1    Chen, G.2    Alonso, A.M.3    Isidoro, A.4    Misek, D.E.5    Hanash, S.M.6    Beer, D.G.7
  • 13
    • 0036086130 scopus 로고    scopus 로고
    • Free radicals in the physiological control of cell function
    • Droge W. 2002. Free radicals in the physiological control of cell function. Physiol Rev 82:47-95.
    • (2002) Physiol Rev , vol.82 , pp. 47-95
    • Droge, W.1
  • 15
    • 0030016359 scopus 로고    scopus 로고
    • Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation
    • Guan MX, Fischel-Ghodsian N, Attardi G. 1996. Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. Hum Mol Genet 5:963-971.
    • (1996) Hum Mol Genet , vol.5 , pp. 963-971
    • Guan, M.X.1    Fischel-Ghodsian, N.2    Attardi, G.3
  • 16
    • 0025836655 scopus 로고
    • Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction
    • Hayashi J, Ohta S, Kikuchi A, Takemitsu M, Goto Y, Nonaka I. 1991. Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci USA 88: 10614-10618.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 10614-10618
    • Hayashi, J.1    Ohta, S.2    Kikuchi, A.3    Takemitsu, M.4    Goto, Y.5    Nonaka, I.6
  • 18
    • 15844414869 scopus 로고    scopus 로고
    • Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy
    • Hofhaus G, Johns DR, Hurko O, Attardi G, Chomyn A. 1996a. Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy. J Biol Chem 271:13155-13161.
    • (1996) J Biol Chem , vol.271 , pp. 13155-13161
    • Hofhaus, G.1    Johns, D.R.2    Hurko, O.3    Attardi, G.4    Chomyn, A.5
  • 19
    • 0029935370 scopus 로고    scopus 로고
    • Use of polarography to detect respiration defects in cell cultures
    • Hofhaus G, Shakeley RM, Attardi G. 1996b. Use of polarography to detect respiration defects in cell cultures. Methods Enzymol 264:476-483.
    • (1996) Methods Enzymol , vol.264 , pp. 476-483
    • Hofhaus, G.1    Shakeley, R.M.2    Attardi, G.3
  • 21
    • 0035866352 scopus 로고    scopus 로고
    • Detection of mitochondrial DNA mutations in pancreatic cancer offers a "mass"-ive advantage over detection of nuclear DNA mutations
    • Jones JB, Song JJ, Hempen PM, Parmigiani G, Hruban RH, Kern SE. 2001. Detection of mitochondrial DNA mutations in pancreatic cancer offers a "mass"-ive advantage over detection of nuclear DNA mutations. Cancer Res 61:1299-1304.
    • (2001) Cancer Res , vol.61 , pp. 1299-1304
    • Jones, J.B.1    Song, J.J.2    Hempen, P.M.3    Parmigiani, G.4    Hruban, R.H.5    Kern, S.E.6
  • 22
    • 0024448458 scopus 로고
    • Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
    • King MP, Attardi G. 1989. Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 246:500-503.
    • (1989) Science , vol.246 , pp. 500-503
    • King, M.P.1    Attardi, G.2
  • 23
    • 0042387705 scopus 로고    scopus 로고
    • Phylogeny of East Asian mitochondrial DNA lineages inferred from complete sequences
    • Kong QP, Yao YG, Sun C, Bandelt HJ, Zhu CL, Zhang YP. 2003. Phylogeny of East Asian mitochondrial DNA lineages inferred from complete sequences. Am J Hum Genet 73:671-676.
    • (2003) Am J Hum Genet , vol.73 , pp. 671-676
    • Kong, Q.P.1    Yao, Y.G.2    Sun, C.3    Bandelt, H.J.4    Zhu, C.L.5    Zhang, Y.P.6
  • 27
    • 0033767445 scopus 로고    scopus 로고
    • Mutations in SDHC cause autosomal dominant paraganglioma, type 3
    • Niemann S, Muller U. 2000. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 26:268-270.
    • (2000) Nat Genet , vol.26 , pp. 268-270
    • Niemann, S.1    Muller, U.2
  • 29
    • 0141509869 scopus 로고    scopus 로고
    • Inhibition of mitochondrial respiration: A novel strategy to enhance drug-induced apoptosis in human leukemia cells by a reactive oxygen species-mediated mechanism
    • Pelicano H, Feng L, Zhou Y, Carew JS, Hileman EO, Plunkett W, Keating MJ, Huang E 2003. Inhibition of mitochondrial respiration: a novel strategy to enhance drug-induced apoptosis in human leukemia cells by a reactive oxygen species-mediated mechanism. J Biol Chem 278:37832-37839.
    • (2003) J Biol Chem , vol.278 , pp. 37832-37839
    • Pelicano, H.1    Feng, L.2    Zhou, Y.3    Carew, J.S.4    Hileman, E.O.5    Plunkett, W.6    Keating, M.J.7    Huang, E.8
  • 32
    • 3543067962 scopus 로고    scopus 로고
    • Neurodegenerative disorders associated with diabetes mellitus
    • Ristow M. 2004. Neurodegenerative disorders associated with diabetes mellitus. J Mol Med 82:510-529.
    • (2004) J Mol Med , vol.82 , pp. 510-529
    • Ristow, M.1
  • 34
    • 0347356538 scopus 로고    scopus 로고
    • Effects of purifying and adaptive selection on regional variation in human mtDNA
    • Ruiz-Pesini E, Mishmar D, Brandon M, Procaccio V, Wallace DC. 2004. Effects of purifying and adaptive selection on regional variation in human mtDNA. Science 303:223-226.
    • (2004) Science , vol.303 , pp. 223-226
    • Ruiz-Pesini, E.1    Mishmar, D.2    Brandon, M.3    Procaccio, V.4    Wallace, D.C.5
  • 38
    • 16444386967 scopus 로고    scopus 로고
    • Positive contribution of pathogenic mutations in the mitochondrial genome to the promotion of cancer by prevention from apoptosis
    • Shidara Y, Yamagata K, Kanamori T, Nakano K, Kwong JQ, Manfredi G, Oda H, Ohta S. 2005. Positive contribution of pathogenic mutations in the mitochondrial genome to the promotion of cancer by prevention from apoptosis. Cancer Res 65:1655-1663.
    • (2005) Cancer Res , vol.65 , pp. 1655-1663
    • Shidara, Y.1    Yamagata, K.2    Kanamori, T.3    Nakano, K.4    Kwong, J.Q.5    Manfredi, G.6    Oda, H.7    Ohta, S.8
  • 39
    • 77957010982 scopus 로고
    • Citrate synthase
    • Lowenstein JM, editor. London: Elsevier Academic Press
    • Srere PA. 1969. Citrate synthase. In: Lowenstein JM, editor. Methods in Enzymology, Vol. 13. London: Elsevier Academic Press, p 3-11.
    • (1969) Methods in Enzymology , vol.13 , pp. 3-11
    • Srere, P.A.1
  • 41
    • 17744393686 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in human disease
    • Taylor RW, Turnbull DM. 2005. Mitochondrial DNA mutations in human disease. Nat Rev Genet 6:389-402.
    • (2005) Nat Rev Genet , vol.6 , pp. 389-402
    • Taylor, R.W.1    Turnbull, D.M.2
  • 43
    • 16944363113 scopus 로고    scopus 로고
    • 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
    • Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, De Negri A, Scozzari R. 1997. 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 60:1107-1121.
    • (1997) Am J Hum Genet , vol.60 , pp. 1107-1121
    • Torroni, A.1    Petrozzi, M.2    D'Urbano, L.3    Sellitto, D.4    Zeviani, M.5    Carrara, F.6    Carducci, C.7    Leuzzi, V.8    Carelli, V.9    Barboni, P.10    De Negri, A.11    Scozzari, R.12
  • 46
    • 0029045299 scopus 로고
    • 1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging
    • Wallace DC. 1995. 1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging. Am J Hum Genet 57:201-223.
    • (1995) Am J Hum Genet , vol.57 , pp. 201-223
    • Wallace, D.C.1
  • 47
    • 0001768994 scopus 로고
    • On the metabolism of tumors in the body
    • Warburg O, editor. London: Arnold Constable & Co.
    • Warburg O, Wind F, Neglers E. 1930. On the metabolism of tumors in the body. In: Warburg O, editor. The metabolism of tumors. London: Arnold Constable & Co. p 254-270.
    • (1930) The Metabolism of Tumors , pp. 254-270
    • Warburg, O.1    Wind, F.2    Neglers, E.3
  • 48
    • 11444255268 scopus 로고
    • On respiratory impairment in cancer cells
    • Warburg O. 1956. On respiratory impairment in cancer cells. Science 124:269-270.
    • (1956) Science , vol.124 , pp. 269-270
    • Warburg, O.1
  • 49
    • 2042432480 scopus 로고
    • Cytochrome oxidase from beef heart mitochondria
    • Estabrook RW, Pullman ME, editors. London: Elsevier Academic Press
    • Wharton DC, Tzagoloff A. 1967. Cytochrome oxidase from beef heart mitochondria. In: Estabrook RW, Pullman ME, editors. Methods in Enzymology, Vol. 10. London: Elsevier Academic Press. p 245-250.
    • (1967) Methods in Enzymology , vol.10 , pp. 245-250
    • Wharton, D.C.1    Tzagoloff, A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.