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Volumn 1822, Issue 8, 2012, Pages 1216-1222

Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy

Author keywords

Cybrid; Haplogroup; Leber's hereditary optic neuropathy; Mitochondrial DNA; Oxidative phosphorylation

Indexed keywords

ADENOSINE TRIPHOSPHATE; MITOCHONDRIAL DNA; MITOCHONDRIAL RNA;

EID: 84861211027     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2012.04.014     Document Type: Article
Times cited : (84)

References (50)
  • 1
    • 79551638162 scopus 로고    scopus 로고
    • Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies
    • Yu-Wai-Man P., Griffiths P.G., Chinnery P.F. Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies. Prog. Retin. Eye Res. 2011, 30:81-114.
    • (2011) Prog. Retin. Eye Res. , vol.30 , pp. 81-114
    • Yu-Wai-Man, P.1    Griffiths, P.G.2    Chinnery, P.F.3
  • 2
    • 0031034482 scopus 로고    scopus 로고
    • Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage
    • Brown M.D., Sun F., Wallace D.C. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am. J. Hum. Genet. 1997, 60:381-387.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 381-387
    • Brown, M.D.1    Sun, F.2    Wallace, D.C.3
  • 5
    • 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. 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. 1997, 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
  • 7
    • 0041320865 scopus 로고    scopus 로고
    • Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA background
    • Howell N., Herrnstadt C., Shults C., Mackey D.A. Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA background. Am. J. Med. Genet. A 2003, 119A:147-151.
    • (2003) Am. J. Med. Genet. A , vol.119 A , pp. 147-151
    • Howell, N.1    Herrnstadt, C.2    Shults, C.3    Mackey, D.A.4
  • 9
    • 0024448458 scopus 로고
    • Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation
    • King M.P., Attardi G. Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 1989, 246:500-503.
    • (1989) Science , vol.246 , pp. 500-503
    • King, M.P.1    Attardi, G.2
  • 11
    • 77950488564 scopus 로고    scopus 로고
    • Nuclear respiratory factor 2 induces the expression of many but not all human proteins acting in mitochondrial DNA transcription and replication
    • Bruni F., Polosa P.L., Gadaleta M.N., Cantatore P., Roberti M. Nuclear respiratory factor 2 induces the expression of many but not all human proteins acting in mitochondrial DNA transcription and replication. J. Biol. Chem. 2010, 285:3939-3948.
    • (2010) J. Biol. Chem. , vol.285 , pp. 3939-3948
    • Bruni, F.1    Polosa, P.L.2    Gadaleta, M.N.3    Cantatore, P.4    Roberti, M.5
  • 14
    • 27144488229 scopus 로고    scopus 로고
    • Novel role of p53 in maintaining mitochondrial genetic stability through interaction with DNA Pol gamma
    • Achanta G., Sasaki R., Feng L., Carew J.S., Lu W., Pelicano H., Keating M.J., Huang P. Novel role of p53 in maintaining mitochondrial genetic stability through interaction with DNA Pol gamma. EMBO J. 2005, 24:3482-3492.
    • (2005) EMBO J. , vol.24 , pp. 3482-3492
    • Achanta, G.1    Sasaki, R.2    Feng, L.3    Carew, J.S.4    Lu, W.5    Pelicano, H.6    Keating, M.J.7    Huang, P.8
  • 17
    • 33746158952 scopus 로고    scopus 로고
    • Gene expression of cytokines and cytokine receptors is modulated by the common variability of the mitochondrial DNA in cybrid cell lines
    • Bellizzi D., Cavalcante P., Taverna D., Rose G., Passarino G., Salvioli S., Franceschi C., De Benedictis G. Gene expression of cytokines and cytokine receptors is modulated by the common variability of the mitochondrial DNA in cybrid cell lines. Genes Cells 2006, 11:883-891.
    • (2006) Genes Cells , vol.11 , pp. 883-891
    • Bellizzi, D.1    Cavalcante, P.2    Taverna, D.3    Rose, G.4    Passarino, G.5    Salvioli, S.6    Franceschi, C.7    De Benedictis, G.8
  • 18
    • 66149142821 scopus 로고    scopus 로고
    • Mitochondrial DNA variability modulates mRNA and intra-mitochondrial protein levels of HSP60 and HSP75: experimental evidence from cybrid lines
    • Bellizzi D., Taverna D., D'Aquila P., De Blasi S., De Benedictis G. Mitochondrial DNA variability modulates mRNA and intra-mitochondrial protein levels of HSP60 and HSP75: experimental evidence from cybrid lines. Cell Stress Chaperones 2009, 14:265-271.
    • (2009) Cell Stress Chaperones , vol.14 , pp. 265-271
    • Bellizzi, D.1    Taverna, D.2    D'Aquila, P.3    De Blasi, S.4    De Benedictis, G.5
  • 19
    • 0027959628 scopus 로고
    • Inhibition by N-acetyl-l-cysteine of interleukin-6 mRNA induction and activation of NF kappa B by tumor necrosis factor alpha in a mouse fibroblastic cell line, Balb/3T3
    • Shibanuma M., Kuroki T., Nose K. Inhibition by N-acetyl-l-cysteine of interleukin-6 mRNA induction and activation of NF kappa B by tumor necrosis factor alpha in a mouse fibroblastic cell line, Balb/3T3. FEBS Lett. 1994, 353:62-66.
    • (1994) FEBS Lett. , vol.353 , pp. 62-66
    • Shibanuma, M.1    Kuroki, T.2    Nose, K.3
  • 20
    • 0022974362 scopus 로고
    • Mitochondrial gene expression in mammalian striated muscle. Evidence that variation in gene dosage is the major regulatory event
    • Williams R.S. Mitochondrial gene expression in mammalian striated muscle. Evidence that variation in gene dosage is the major regulatory event. J. Biol. Chem. 1986, 261:12390-12394.
    • (1986) J. Biol. Chem. , vol.261 , pp. 12390-12394
    • Williams, R.S.1
  • 22
    • 3242668604 scopus 로고    scopus 로고
    • Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication
    • Coskun P.E., Beal M.F., Wallace D.C. Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication. Proc. Natl. Acad. Sci. U. S. A. 2004, 101:10726-10731.
    • (2004) Proc. Natl. Acad. Sci. U. S. A. , vol.101 , pp. 10726-10731
    • Coskun, P.E.1    Beal, M.F.2    Wallace, D.C.3
  • 23
    • 34547621748 scopus 로고    scopus 로고
    • Relative abundance of the human mitochondrial transcription system and distinct roles for h-mtTFB1 and h-mtTFB2 in mitochondrial biogenesis and gene expression
    • Cotney J., Wang Z., Shadel G.S. 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. 2007, 35:4042-4054.
    • (2007) Nucleic Acids Res. , vol.35 , pp. 4042-4054
    • Cotney, J.1    Wang, Z.2    Shadel, G.S.3
  • 25
    • 35848966984 scopus 로고    scopus 로고
    • Strong association between mitochondrial DNA copy number and lipogenesis in human white adipose tissue
    • Kaaman M., Sparks L.M., van Harmelen V., Smith S.R., Sjolin E., Dahlman I., Arner P. Strong association between mitochondrial DNA copy number and lipogenesis in human white adipose tissue. Diabetologia 2007, 50:2526-2533.
    • (2007) Diabetologia , vol.50 , pp. 2526-2533
    • Kaaman, M.1    Sparks, L.M.2    van Harmelen, V.3    Smith, S.R.4    Sjolin, E.5    Dahlman, I.6    Arner, P.7
  • 31
    • 0030070924 scopus 로고    scopus 로고
    • Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number
    • Bentlage H.A., Attardi G. Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number. Hum. Mol. Genet. 1996, 5:197-205.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 197-205
    • Bentlage, H.A.1    Attardi, G.2
  • 32
    • 0030059079 scopus 로고    scopus 로고
    • Aging-dependent functional alterations of mitochondrial DNA (mtDNA) from human fibroblasts transferred into mtDNA-less cells
    • Laderman K.A., Penny J.R., Mazzucchelli F., Bresolin N., Scarlato G., Attardi G. Aging-dependent functional alterations of mitochondrial DNA (mtDNA) from human fibroblasts transferred into mtDNA-less cells. J. Biol. Chem. 1996, 271:15891-15897.
    • (1996) J. Biol. Chem. , vol.271 , pp. 15891-15897
    • Laderman, K.A.1    Penny, J.R.2    Mazzucchelli, F.3    Bresolin, N.4    Scarlato, G.5    Attardi, G.6
  • 33
    • 77951225344 scopus 로고    scopus 로고
    • Generation and bioenergetic analysis of cybrids containing mitochondrial DNA from mouse skeletal muscle during aging
    • Li Y., Li H.Z., Hu P., Deng J., Banoei M.M., Sharma L.K., Bai Y. Generation and bioenergetic analysis of cybrids containing mitochondrial DNA from mouse skeletal muscle during aging. Nucleic Acids Res. 2010, 38:1913-1921.
    • (2010) Nucleic Acids Res. , vol.38 , pp. 1913-1921
    • Li, Y.1    Li, H.Z.2    Hu, P.3    Deng, J.4    Banoei, M.M.5    Sharma, L.K.6    Bai, Y.7
  • 34
    • 0033522924 scopus 로고    scopus 로고
    • Titrating the effects of mitochondrial complex I impairment in the cell physiology
    • Barrientos A., Moraes C.T. Titrating the effects of mitochondrial complex I impairment in the cell physiology. J. Biol. Chem. 1999, 274:16188-16197.
    • (1999) J. Biol. Chem. , vol.274 , pp. 16188-16197
    • Barrientos, A.1    Moraes, C.T.2
  • 36
    • 74049108985 scopus 로고    scopus 로고
    • MtDNA G10398A variant in African-American women with breast cancer provides resistance to apoptosis and promotes metastasis in mice
    • Kulawiec M., Owens K.M., Singh K.K. mtDNA G10398A variant in African-American women with breast cancer provides resistance to apoptosis and promotes metastasis in mice. J. Hum. Genet. 2009, 54:647-654.
    • (2009) J. Hum. Genet. , vol.54 , pp. 647-654
    • Kulawiec, M.1    Owens, K.M.2    Singh, K.K.3
  • 37
    • 77952884254 scopus 로고    scopus 로고
    • Analysis of functional consequences of haplogroup J polymorphisms m.4216T>C and m.3866T>C in human MT-ND1: mutagenesis of homologous positions in Escherichia coli
    • Hinttala R., Kervinen M., Uusimaa J., Maliniemi P., Finnila S., Rantala H., Remes A.M., Hassinen I.E., Majamaa K. Analysis of functional consequences of haplogroup J polymorphisms m.4216T>C and m.3866T>C in human MT-ND1: mutagenesis of homologous positions in Escherichia coli. Mitochondrion 2010, 10:358-361.
    • (2010) Mitochondrion , vol.10 , pp. 358-361
    • Hinttala, R.1    Kervinen, M.2    Uusimaa, J.3    Maliniemi, P.4    Finnila, S.5    Rantala, H.6    Remes, A.M.7    Hassinen, I.E.8    Majamaa, K.9
  • 38
    • 67149146192 scopus 로고    scopus 로고
    • Evolutionary pressure on mitochondrial cytochrome b is consistent with a role of CytbI7T affecting longevity during caloric restriction
    • Beckstead W.A., Ebbert M.T., Rowe M.J., McClellan D.A. Evolutionary pressure on mitochondrial cytochrome b is consistent with a role of CytbI7T affecting longevity during caloric restriction. PLoS One 2009, 4:e5836.
    • (2009) PLoS One , vol.4
    • Beckstead, W.A.1    Ebbert, M.T.2    Rowe, M.J.3    McClellan, D.A.4
  • 40
    • 79960218332 scopus 로고    scopus 로고
    • Gene expression pattern in transmitochondrial cytoplasmic hybrid cells harboring type 2 diabetes-associated mitochondrial DNA haplogroups
    • Hwang S., Kwak S.H., Bhak J., Kang H.S., Lee Y.R., Koo B.K., Park K.S., Lee H.K., Cho Y.M. Gene expression pattern in transmitochondrial cytoplasmic hybrid cells harboring type 2 diabetes-associated mitochondrial DNA haplogroups. PLoS One 2011, 6:e22116.
    • (2011) PLoS One , vol.6
    • Hwang, S.1    Kwak, S.H.2    Bhak, J.3    Kang, H.S.4    Lee, Y.R.5    Koo, B.K.6    Park, K.S.7    Lee, H.K.8    Cho, Y.M.9
  • 41
    • 1842665662 scopus 로고    scopus 로고
    • Mitochondrial signaling: the retrograde response
    • Butow R.A., Avadhani N.G. Mitochondrial signaling: the retrograde response. Mol. Cell 2004, 14:1-15.
    • (2004) Mol. Cell , vol.14 , pp. 1-15
    • Butow, R.A.1    Avadhani, N.G.2
  • 42
    • 66049087696 scopus 로고    scopus 로고
    • The coordination of nuclear and mitochondrial communication during aging and calorie restriction
    • Finley L.W., Haigis M.C. The coordination of nuclear and mitochondrial communication during aging and calorie restriction. Ageing Res. Rev. 2009, 8:173-188.
    • (2009) Ageing Res. Rev. , vol.8 , pp. 173-188
    • Finley, L.W.1    Haigis, M.C.2
  • 48
    • 12744274597 scopus 로고    scopus 로고
    • MtDNA/nDNA ratio in 14484 LHON mitochondrial mutation carriers
    • Nishioka T., Soemantri A., Ishida T. mtDNA/nDNA ratio in 14484 LHON mitochondrial mutation carriers. J. Hum. Genet. 2004, 49:701-705.
    • (2004) J. Hum. Genet. , vol.49 , pp. 701-705
    • Nishioka, T.1    Soemantri, A.2    Ishida, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.