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Volumn 15, Issue 7, 2013, Pages 596-600

Mitochondrial disorders associated with mitochondrial respiratory chain complex V deficiency

(2)  Li, Xi Yuan a   Yang, Yan Ling a  

a NONE

Author keywords

[No Author keywords available]

Indexed keywords

DISORDERS OF MITOCHONDRIAL FUNCTIONS; HUMAN; MITOCHONDIAL RESPIRATORY CHAIN COMPLEX V DEFICIENCY; REVIEW;

EID: 84885447161     PISSN: 10088830     EISSN: None     Source Type: Journal    
DOI: 10.7499/j.issn.1008-8830.2013.07.022     Document Type: Review
Times cited : (4)

References (54)
  • 1
    • 80053484553 scopus 로고    scopus 로고
    • 1 fo ATM synthase: Modulation of the body's powerhouse and its mplications for human dis-ease[J]
    • 1 Fo ATM synthase: modulation of the body's powerhouse and its mplications for human dis-ease[J]. Curr Med Chem, 2011, 18 (30): 4684-4714.
    • (2011) Curr Med Chem , vol.18 , Issue.30 , pp. 4684-4714
    • Johnson, J.A.1    Ogbi, M.2
  • 2
    • 84859315915 scopus 로고    scopus 로고
    • HcRed, a genetically sncoded fluorescent binary cross-linking agent for cross-link ing of mitochondrial ATP synthase in saccharomyces cerevisiae [J]
    • Gong L, Ramm G, Devenish R.J., Prescott M. HcRed, a genetically sncoded fluorescent binary cross-linking agent for cross-link ing of mitochondrial ATP synthase in Saccharomyces cerevisiae [J]. PLoS One, 2012, 7 (4): e35095.
    • (2012) PLoS One , vol.7 , Issue.4
    • Gong, L.1    Ramm, G.2    Devenish, R.J.3    Prescott, M.4
  • 4
    • 50949098032 scopus 로고    scopus 로고
    • Structural organization of mitochondrial ATP synthase [J]
    • Wittig I, Schagger H. Structural organization of mitochondrial ATP synthase [J]. Biochim Biophys Acta, 2008, 1777 (7-8): 592-598.
    • (2008) Biochim Biophys Acta , vol.1777 , Issue.7-8 , pp. 592-598
    • Wittig, I.1    Schagger, H.2
  • 5
    • 0033538506 scopus 로고    scopus 로고
    • Novel features in the structure of bovine ATP synthase
    • DOI 10.1006/jmbi.1999.2897
    • Karrasch S, Walker JE. Novel features m the structure of bovine ATP synthase [J]. J Mol Biol, 1999, 290 (2): 379-384. (Pubitemid 29324824)
    • (1999) Journal of Molecular Biology , vol.290 , Issue.2 , pp. 379-384
    • Karrasch, S.1    Walker, J.E.2
  • 8
    • 0347504884 scopus 로고    scopus 로고
    • Structure of the mitochondrial ATP synthase by electron cryomicroscopy
    • DOI 10.1093/emboj/cdg608
    • Rubinstein JL, Walker JE, Henderson R. Structure of the mitochondrial ATP synthase by electron cryomicroscopy [J]. EMBO J, 2003, 22(23): 6182-6192. (Pubitemid 37522576)
    • (2003) EMBO Journal , vol.22 , Issue.23 , pp. 6182-6192
    • Rubinstein, J.L.1    Walker, J.E.2    Henderson, R.3
  • 12
    • 0036496185 scopus 로고    scopus 로고
    • 0-type ATP synthase, a biological rotary motor
    • DOI 10.1016/S0968-0004(01)02051-5, PII S0968000401020515
    • Capaldi RA, Aggeler R. Mechanism of the F(1)F(0)-type ATP synthase, a biological rotary motor [J]. Trends Biochem Sci, 2002, 27 (3): 154-160. (Pubitemid 34219326)
    • (2002) Trends in Biochemical Sciences , vol.27 , Issue.3 , pp. 154-160
    • Capaldi, R.A.1    Aggeler, R.2
  • 14
    • 0032997722 scopus 로고    scopus 로고
    • Purification and identification of an estrogen binding protein from rat brain: Oligomycin sensitivity-conferring protein (OSCP), a subunit of mitochondrial FOF1-ATP synthase/ATPase
    • DOI 10.1016/S0960-0760(98)00161-7, PII S0960076098001617
    • 1-ATP synthase/ATPase [J]. J Steroid Biochem Mol Biol, 1999, 68 (1-2): 65-75. (Pubitemid 29130387)
    • (1999) Journal of Steroid Biochemistry and Molecular Biology , vol.68 , Issue.1-2 , pp. 65-75
    • Zheng, J.1    Ramirez, V.D.2
  • 15
    • 0034177254 scopus 로고    scopus 로고
    • Cloning, characterization and mapping of the human ATP5E gene, identification of pseudogene ATP5EP1, and definition of the ATP5E motif
    • DOI 10.1042/0264-6021:3470017
    • Tu Q, Yu L, Zhang P., Zhang M, Zhang H, J iang J, et al. Cloning, characterization and mapping of the human ATP5E gene, identification of pseudogene ATP5EP1, and definition of the ATP5E motif [J]. Biochem J, 2000, 347(Pt 1): 17-21. (Pubitemid 30199035)
    • (2000) Biochemical Journal , vol.347 , Issue.1 , pp. 17-21
    • Tu, Q.1    Yu, L.2    Zhang, P.3    Zhang, M.4    Zhang, H.5    Jiang, J.6    Chen, C.7    Zhao, S.8
  • 17
    • 77954733228 scopus 로고    scopus 로고
    • 1 fo-ATP synthase in neonatal cardiac myocytes: Implications for energy preservation and survival [J]
    • 1 Fo-ATP synthase in neonatal cardiac myocytes: implications for energy preservation and survival [J]. Biochem J, 2010, 429 (2): 335-345.
    • (2010) Biochem J , vol.429 , Issue.2 , pp. 335-345
    • Nguyen, T.T.1    Ogbi, M.2    Yu, Q.3    Johnson, J.A.4
  • 18
    • 33745713048 scopus 로고    scopus 로고
    • The peripheral stalk of the mitochondrial ATP synthase
    • DOI 10.1016/j.bbabio.2006.01.001, PII S0005272806000028
    • Walker JE, Dckson VK. The penpheral stalk of the mitechondrial ATP synthase [J]. Biochim Biophys Acta, 2006, 1757 (5-6): 286-296. (Pubitemid 43996944)
    • (2006) Biochimica et Biophysica Acta - Bioenergetics , vol.1757 , Issue.5-6 , pp. 286-296
    • Walker, J.E.1    Dickson, V.K.2
  • 19
    • 71749098386 scopus 로고    scopus 로고
    • Dabbeni-sa basso E, [J]
    • Giorgio V, Bisetto E, Soriano M.E., Dabbeni-Sa Basso E, [J]. J Biol Chem, 2009, 284 (49): 33982-33988.
    • (2009) J Biol Chem , vol.284 , Issue.49 , pp. 33982-33988
    • Giorgio, V.1    Bisetto, E.2    Soriano, M.E.3
  • 20
    • 35649011448 scopus 로고    scopus 로고
    • Identification of two proteins associated with mammalian ATP synthase
    • DOI 10.1074/mcp.M700097-MCP200
    • Meyer B, Wittig I, Trifilieff E., Karas M, Schagger H. Identification of two proteins associated with mammalian ATP synthase [J]. Mol Cell Proteomics, 2007, 6 (10): 1690-1699. (Pubitemid 350031671)
    • (2007) Molecular and Cellular Proteomics , vol.6 , Issue.10 , pp. 1690-1699
    • Meyer, B.1    Wittig, I.2    Trifilieff, E.3    Karas, M.4    Schagger, H.5
  • 21
    • 67650694493 scopus 로고    scopus 로고
    • Recent advances in structure-functional studies of mitochondrial factor B [J]
    • Belogrudov GL Recent advances in structure-functional studies of mitochondrial factor B [J]. J Bioenerg Biomembr, 2009, 41 (2): 137-143.
    • (2009) J Bioenerg Biomembr , vol.41 , Issue.2 , pp. 137-143
    • Belogrudov, G.L.1
  • 23
    • 76049093135 scopus 로고    scopus 로고
    • The structure of the membrane extrinsic region of bovine ATP synthase [J]
    • Rees DM, Leslie AG, Walker JE. The structure of the membrane extrinsic region of bovine ATP synthase [J]. Proc Natl Acad Sci USA, 2009, 106 (51): 21597-21601.
    • (2009) Proc Natl Acad Sci USA , vol.106 , Issue.51 , pp. 21597-21601
    • Rees, D.M.1    Leslie, A.G.2    Walker, J.E.3
  • 25
    • 79955629653 scopus 로고    scopus 로고
    • Mitochondrial consumption of cytosolic ATP; not sofast[J]
    • Chinopoulos C. Mitochondrial consumption of cytosolic ATP; not sofast[J]. FEBS Lett, 2011, 585(9): 1255-1259.
    • (2011) FEBS Lett , vol.585 , Issue.9 , pp. 1255-1259
    • Chinopoulos, C.1
  • 27
    • 33745026962 scopus 로고    scopus 로고
    • Two components in pathogenic mechanism of mitochondrial ATPase deficiency: Energy deprivation and ROS production
    • DOI 10.1016/j.exger.2006.02.009, PII S0531556506000441, Proceedings of the 4th Conference on Mitochondrial Physiology - MiP2005, Session 8-11
    • Mracek T, Pecina P, Vojtiskova A., Kalous M, Sebesta O, Houst-ek J. Two components in patho genie mechanism of mitochondrial ATPase deficiency: energy deprivation and ROS production [J]. Exp Gerontol, 2006, 41 (7): 683-687. (Pubitemid 43870321)
    • (2006) Experimental Gerontology , vol.41 , Issue.7 , pp. 683-687
    • Mracek, T.1    Pecina, P.2    Vojtiskova, A.3    Kalous, M.4    Sebesta, O.5    Houstek, J.6
  • 28
    • 77953357281 scopus 로고    scopus 로고
    • Ageing alters the supramolecular architecture of OxPhos complexes in rat brain cortex [J]
    • Frenzel M, Rommelspacher H, Sugawa M.D., Dencher NA. Ageing alters the supramolecular architecture of OxPhos complexes in rat brain cortex [J]. Exp Gerontol, 2010, 45(7-8): 563-572.
    • (2010) Exp Gerontol , vol.45 , Issue.7-8 , pp. 563-572
    • Frenzel, M.1    Rommelspacher, H.2    Sugawa, M.D.3    Dencher, N.A.4
  • 29
    • 79955703875 scopus 로고    scopus 로고
    • Biochemical diagnosis of mitochondrial disorders [J]
    • Rodenburg RJ. Biochemical diagnosis of mitochondrial disorders [J]. J Inherit Metab Dis, 2011, 34 (2): 283-292.
    • (2011) J Inherit Metab Dis , vol.34 , Issue.2 , pp. 283-292
    • Rodenburg, R.J.1
  • 30
    • 70350335328 scopus 로고    scopus 로고
    • Parkinson's disease brain mitochondria have impaired respirasome assembly, age-related increases in distribution of oxidative damage to mtDNA and no differences in heteroplasmic mtDNA mutation abundance [J]
    • Arthur CR, Morton SL, Dunham L.D., Keeney PM, Bennett JP Jr. Parkinson's disease brain mitochondria have impaired respirasome assembly, age-related increases in distribution of oxidative damage to mtDNA and no differences in heteroplasmic mtDNA mutation abundance [J]. Mol Neurodegener, 2009, 4: 37.
    • (2009) Mol Neurodegener , vol.4 , pp. 37
    • Arthur, C.R.1    Morton, S.L.2    Dunham, L.D.3    Keeney, P.M.4    Bennett Jr., J.P.5
  • 33
    • 33645576104 scopus 로고    scopus 로고
    • Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and leigh syndrome resulting from the T8993G mutation in mtDNA [J]
    • Sgarbi G, Baracca A, Lenaz G., Valentino LM, Carelli V, Solaini G. Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA [J]. Biochem J, 2006, 395(3): 493-500.
    • (2006) Biochem J , vol.395 , Issue.3 , pp. 493-500
    • Sgarbi, G.1    Baracca, A.2    Lenaz, G.3    Valentino, L.M.4    Carelli, V.5    Solaini, G.6
  • 34
    • 33847064731 scopus 로고    scopus 로고
    • A previously undescribed leukodystrophy in leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene [J]
    • Hung PC, Wang HS. A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene [J]. Dev Med Child Neurol, 2007, 49 (1): 65-67.
    • (2007) Dev Med Child Neurol , vol.49 , Issue.1 , pp. 65-67
    • Hung, P.C.1    Wang, H.S.2
  • 35
    • 66249119710 scopus 로고    scopus 로고
    • Infantile cardiomyopathy caused by a mutation in the over-lapping region of mitochondrial ATPase 6 and 8 genes [J]
    • Ware SM, El-Hassan N, K ahler SG, Zhang O, Ma YW, Miler E, et al. Infantile cardiomyopathy caused by a mutation in the over-lapping region of mitochondrial ATPase 6 and 8 genes [J]. J Med Genet, 2009, 46 (5): 308-314.
    • (2009) J Med Genet , vol.46 , Issue.5 , pp. 308-314
    • Ware, S.M.1    El-Hassan, N.2    Ahler, S.G.K.3    Zhang, O.4    Ma, Y.W.5    Miler, E.6
  • 36
    • 0037223749 scopus 로고    scopus 로고
    • Some practical aspects of providing a diagnostic service for respiratory chain defects
    • DOI 10.1258/000456303321016114
    • Janssen AJ, Smeitink JA, van den Heuvel LP. Some practical aspects of providing a diagnostic service for respiratory chain defects [J]. Ann Clin Biochem, 2003, 40 (Pt 1): 3-8. (Pubitemid 36051404)
    • (2003) Annals of Clinical Biochemistry , vol.40 , Issue.1 , pp. 3-8
    • Janssen, A.J.M.1    Smeitink, J.A.M.2    Van Den Heuvel, L.P.3
  • 39
    • 0026566850 scopus 로고
    • Heteroplasmic mtDNA mutation (T-G) at 8993 can cause leigh disease when the percentage of abnormal mtDNA is high [J]
    • Tatuch Y, Christodoulou J, Fei genbaum A, Clarke JT, Wherret J, Smith C., et al. Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high [J]. Am J Hum Genet, 1992, 50 (4): 852-858.
    • (1992) Am J Hum Genet , vol.50 , Issue.4 , pp. 852-858
    • Tatuch, Y.1    Christodoulou, J.2    Fei Genbaum, A.3    Clarke, J.T.4    Wherret, J.5    Smith, C.6
  • 40
    • 80053438578 scopus 로고    scopus 로고
    • Modes of metabolic compensation during mitochondrial disease using the drosophila model of ATP6 dysfunction [J]
    • Celotto AM, Chiu WK, Van Voorhies W, Palladino MJ. Modes of metabolic compensation during mitochondrial disease using the Drosophila model of ATP6 dysfunction [J]. PLoS One, 2011, 6 (10): e25823.
    • (2011) PLoS One , vol.6 , Issue.10
    • Celotto, A.M.1    Chiu, W.K.2    Van Voorhies, W.3    Palladino, M.J.4
  • 41
    • 33750990215 scopus 로고    scopus 로고
    • Brain pseudoatrophy and mental regression on valproate and a mitochondrial DNA mutation
    • DOI 10.1212/01.wnl.0000242882.58086.9a, PII 0000611420061114000047
    • Galimberti CA, Diegoli M, Sartori I., Uggetti C, Brega A, Tartara A., et al. Brain pseudoatrophy and mental regression on valprote and a mitochondirial DNAmutation [J]. Neurology, 2006 67 (9): 1715-1717. (Pubitemid 44747961)
    • (2006) Neurology , vol.67 , Issue.9 , pp. 1715-1717
    • Galimberti, C.A.1    Diegoli, M.2    Sartori, I.3    Uggetti, C.4    Brega, A.5    Tartara, A.6    Arbustini, E.7
  • 43
    • 70450175517 scopus 로고    scopus 로고
    • The mtDNA nt7778 G/T polymorphism affects autoimmune diseases and reproductive performance in the mouse [J]
    • Yu X, Wester-Rosenlof L, Gimsa U., Holzhueter SA, Marques A, Jonas L, et al. The mtDNA nt7778 G/T polymorphism affects autoimmune diseases and reproductive performance in the mouse [J]. Hum Mol Genet, 2009, 18(24): 4689-4698.
    • (2009) Hum Mol Genet , vol.18 , Issue.24 , pp. 4689-4698
    • Yu, X.1    Wester-Rosenlof, L.2    Gimsa, U.3    Holzhueter, S.A.4    Marques, A.5    Jonas, L.6
  • 45
    • 84868300240 scopus 로고    scopus 로고
    • TMEM70: A mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis[J]
    • Torraco A, Verrigni D, Rizza T., Meschini MC, Vazquez-Memije, Martinelli D, et al. TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis[J]. Neurogenetics, 2012, 13(14): 375-386.
    • (2012) Neurogenetics , vol.13 , Issue.14 , pp. 375-386
    • Torraco, A.1    Verrigni, D.2    Rizza, T.3    Meschini, M.C.4    Vazquez-Memije5    Martinelli, D.6
  • 46
    • 67349139654 scopus 로고    scopus 로고
    • TMEM70 protein - A novel ancilary factor of mammalian ATP synthase [J]
    • Houstek J, Kmoch S, Zeman J. TMEM70 protein - a novel ancilary factor of mammalian ATP synthase [J]. Biochem Biophys Acta, 2009, 1787 (5): 529-532.
    • (2009) Biochem Biophys Acta , vol.1787 , Issue.5 , pp. 529-532
    • Houstek, J.1    Kmoch, S.2    Zeman, J.3
  • 47
    • 55049120285 scopus 로고    scopus 로고
    • TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy [J]
    • Cizkova A, Strankecky V, Mayr J.A., Tesarova M., Havlickova V, Paul J, et al. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy [J]. Nat Genet, 2008, 40 (11): 1288-1290.
    • (2008) Nat Genet , vol.40 , Issue.11 , pp. 1288-1290
    • Cizkova, A.1    Strankecky, V.2    Mayr, J.A.3    Tesarova, M.4    Havlickova, V.5    Paul, J.6
  • 48
    • 79951811299 scopus 로고    scopus 로고
    • TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: Further delineation of a new syndrome [J]
    • Spiegel R, Khayat M, Shalev S.A., Horovitz Y., Mandel H, Hershkovitz E, et al. TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome [J]. J Med Genet, 2011, 48 (3): 177-182.
    • (2011) J Med Genet , vol.48 , Issue.3 , pp. 177-182
    • Spiegel, R.1    Khayat, M.2    Shalev, S.A.3    Horovitz, Y.4    Mandel, H.5    Hershkovitz, E.6
  • 51
    • 1942453308 scopus 로고    scopus 로고
    • The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants
    • DOI 10.1093/hmg/ddh103
    • Mattiazzi M, Vijayvergiya C, Gajewski C.D., DeVivo DC, Lenaz, G, Wiedmann M., et al. The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants [J]. Hum Mol Genet, 2004, 13 (8): 869-879. (Pubitemid 38515215)
    • (2004) Human Molecular Genetics , vol.13 , Issue.8 , pp. 869-879
    • Mattiazzi, M.1    Vijayvergiya, C.2    Gajewski, C.D.3    DeVivo, D.C.4    Lenaz, G.5    Wiedmann, M.6    Manfredi, G.7
  • 52
    • 68549110570 scopus 로고    scopus 로고
    • Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: A potential new therapy [J]
    • Sgarbi G, Casalena GA, B aracca A, Lenaz G, Di Mauro S., Solanini G. Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/ aspartate: a potential new therapy [J]. Arch Neurol, 2009, 66 (8): 951-957.
    • (2009) Arch Neurol , vol.66 , Issue.8 , pp. 951-957
    • Sgarbi, G.1    Casalena, G.A.2    Aracca, A.B.3    Lenaz, G.4    Di Mauro, S.5    Solanini, G.6
  • 53
    • 34250676869 scopus 로고    scopus 로고
    • Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fiborblasts harboring mitochondrial DNA mutations affecting complex I or V subunits [J]
    • Bonnet C, Kaltimbacher V, Ellouze S., Augustin S, Bemt P, Forster V., et al. Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fiborblasts harboring mitochondrial DNA mutations affecting complex I or V subunits [J]. Rejuvenation Res, 2007, 10 (2): 127-144.
    • (2007) Rejuvenation Res , vol.10 , Issue.2 , pp. 127-144
    • Bonnet, C.1    Kaltimbacher, V.2    Ellouze, S.3    Augustin, S.4    Bemt, P.5    Forster, V.6
  • 54
    • 77952096877 scopus 로고    scopus 로고
    • Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease [J]
    • Craven L, Tuppen HA, Greggains G.D., Harbottle SJ, Murphy J L, Cree LM, et al. Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease [J]. Nature, 2010, 465 (7294): 82-85.
    • (2010) Nature , vol.465 , Issue.7294 , pp. 82-85
    • Craven, L.1    Tuppen, H.A.2    Greggains, G.D.3    Harbottle, S.J.4    Murphy, J.L.5    Cree, L.M.6


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