메뉴 건너뛰기




Volumn 43, Issue 7, 2006, Pages 416-424

Diseases of the human mitochondrial oxidative phosphorylation system;Enfermedades del sistema de fosforilación oxidativa mitocondrial humano

Author keywords

Mitochondria; Mitochondrial deoxyribonucleic acid (mtDNA); Mitochondrial diseases; Nuclear deoxyribonucleic acid (nDNA); Oxidative phosphorylation system

Indexed keywords

MITOCHONDRIAL DNA;

EID: 35348883748     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.4307.2005508     Document Type: Review
Times cited : (10)

References (40)
  • 1
    • 0037252462 scopus 로고    scopus 로고
    • Replication and transcription of mammalian mitochondrial DNA
    • Fernández-Silva P, Enríquez JA, Montoya J. Replication and transcription of mammalian mitochondrial DNA. Exp Physiol 2003; 88: 41-56.
    • (2003) Exp Physiol , vol.88 , pp. 41-56
    • Fernández-Silva, P.1    Enríquez, J.A.2    Montoya, J.3
  • 3
    • 0029159804 scopus 로고
    • Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
    • Bourgerom T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Pequignot E, et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 1995; 11: 144-9.
    • (1995) Nat Genet , vol.11 , pp. 144-149
    • Bourgerom, T.1    Rustin, P.2    Chretien, D.3    Birch-Machin, M.4    Bourgeois, M.5    Viegas-Pequignot, E.6
  • 4
    • 0032816291 scopus 로고    scopus 로고
    • Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency
    • Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Lulli L, et al. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann Neurol 1999; 46: 161-6.
    • (1999) Ann Neurol , vol.46 , pp. 161-166
    • Tiranti, V.1    Jaksch, M.2    Hofmann, S.3    Galimberti, C.4    Hoertnagel, K.5    Lulli, L.6
  • 5
    • 0028116345 scopus 로고
    • Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy
    • De Meirleir L, Lissens W, Benelli C, Ponsot G, Desguerre I, Marsac C, et al. Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy. Pediatr Res 1994; 36: 707-12.
    • (1994) Pediatr Res , vol.36 , pp. 707-712
    • De Meirleir, L.1    Lissens, W.2    Benelli, C.3    Ponsot, G.4    Desguerre, I.5    Marsac, C.6
  • 7
    • 18544384889 scopus 로고    scopus 로고
    • Severe impairment of complex I-driven adenosine triphosphate synthesis in Leber hereditary optic neuropathy cybrids
    • Baracca A, Solaini G, Sgarbi G, Lenaz G, Baruzzi A, Schapira AH, et al. Severe impairment of complex I-driven adenosine triphosphate synthesis in Leber hereditary optic neuropathy cybrids. Arch Neurol 2005; 62: 730-6.
    • (2005) Arch Neurol , vol.62 , pp. 730-736
    • Baracca, A.1    Solaini, G.2    Sgarbi, G.3    Lenaz, G.4    Baruzzi, A.5    Schapira, A.H.6
  • 8
    • 0034434583 scopus 로고    scopus 로고
    • Mitochondrial DNA disorders
    • Naviaux RK. Mitochondrial DNA disorders. Eur J Pediat 2000; 159: S219-26.
    • (2000) Eur J Pediat , vol.159
    • Naviaux, R.K.1
  • 9
    • 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 FZ, Wallace DC. Clustering of caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am J Hum Genet 1997; 60: 381-7.
    • (1997) Am J Hum Genet , vol.60 , pp. 381-387
    • Brown, M.D.1    Sun, F.Z.2    Wallace, D.C.3
  • 10
    • 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. Effects of purifying and adaptive selection on regional variation in human mtDNA. Science 2004; 303: 223-6.
    • (2004) Science , vol.303 , pp. 223-226
    • Ruiz-Pesini, E.1    Mishmar, D.2    Brandon, M.3    Procaccio, V.4    Wallace, D.C.5
  • 11
    • 0347003512 scopus 로고    scopus 로고
    • Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family
    • Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, et al. Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am J Hum Genet 2004; 74: 139-52.
    • (2004) Am J Hum Genet , vol.74 , pp. 139-152
    • Zhao, H.1    Li, R.2    Wang, Q.3    Yan, Q.4    Deng, J.H.5    Han, D.6
  • 13
    • 0033623822 scopus 로고    scopus 로고
    • Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families
    • Kirby DM, Kahler SG, Freckmann ML, Reddihough D, Thorburn DR. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. Ann Neurol 2000; 48: 102-4.
    • (2000) Ann Neurol , vol.48 , pp. 102-104
    • Kirby, D.M.1    Kahler, S.G.2    Freckmann, M.L.3    Reddihough, D.4    Thorburn, D.R.5
  • 14
    • 0034938364 scopus 로고    scopus 로고
    • Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
    • Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 2001; 28: 223-31.
    • (2001) Nat Genet , vol.28 , pp. 223-231
    • Spelbrink, J.N.1    Li, F.Y.2    Tiranti, V.3    Nikali, K.4    Yuan, Q.P.5    Tariq, M.6
  • 15
    • 10344253295 scopus 로고    scopus 로고
    • Deoxyribonucleotides and disorders of mitochondrial DNA integrity
    • Saada A. Deoxyribonucleotides and disorders of mitochondrial DNA integrity. DNA Cell Biol 2004; 23: 797-806.
    • (2004) DNA Cell Biol , vol.23 , pp. 797-806
    • Saada, A.1
  • 18
    • 0037417898 scopus 로고    scopus 로고
    • Strikingly higher frequency in centenarians and twins of mtDNA mutation causing remodeling of replication origin in leukocytes
    • Zhang J, Asín-Cayuela J, Fish J, Michikawa Y, Bonafe M, Olivieri F, et al. Strikingly higher frequency in centenarians and twins of mtDNA mutation causing remodeling of replication origin in leukocytes. Proc Natl Acad Sci U S A 2003; 100: 1116-21.
    • (2003) Proc Natl Acad Sci U S A , vol.100 , pp. 1116-1121
    • Zhang, J.1    Asín-Cayuela, J.2    Fish, J.3    Michikawa, Y.4    Bonafe, M.5    Olivieri, F.6
  • 19
    • 3242668604 scopus 로고    scopus 로고
    • Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication
    • Coskun PE, Beal MF, Wallace DC. Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication. Proc Natl Acad Sci U S A 2004; 101: 10726-31.
    • (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
  • 21
    • 0030925929 scopus 로고    scopus 로고
    • Mitochondrial acyl carrier protein is involved in lipoic acid synthesis in Saccharomyces cerevisiae
    • Brody S, Oh C, Hoja U, Schweizer E. Mitochondrial acyl carrier protein is involved in lipoic acid synthesis in Saccharomyces cerevisiae. FEBS Lett 1997; 408: 217-20.
    • (1997) FEBS Lett , vol.408 , pp. 217-220
    • Brody, S.1    Oh, C.2    Hoja, U.3    Schweizer, E.4
  • 22
    • 26444488636 scopus 로고    scopus 로고
    • A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy
    • Ogilvie I, Kennaway NG, Shoubridge EA. A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. J Clin Invest 2005; 115: 2784-92.
    • (2005) J Clin Invest , vol.115 , pp. 2784-2792
    • Ogilvie, I.1    Kennaway, N.G.2    Shoubridge, E.A.3
  • 23
    • 0035024320 scopus 로고    scopus 로고
    • Diagnosis of mitochondrial disorders: Clinical and biochemical approach
    • Thorburn DR, Smeitink J. Diagnosis of mitochondrial disorders: clinical and biochemical approach. J Inherit Metab Dis 2001; 24: 312-6.
    • (2001) J Inherit Metab Dis , vol.24 , pp. 312-316
    • Thorburn, D.R.1    Smeitink, J.2
  • 24
    • 4344595430 scopus 로고    scopus 로고
    • The role of the LRPPRC gene in cytochrome oxidase assembly: Mutation causes lowered levels of COX I and COX III mRNA
    • Xu F, Morin C, Mitchell G, Ackerley C, Robinson BH. The role of the LRPPRC gene in cytochrome oxidase assembly: mutation causes lowered levels of COX I and COX III mRNA. Biochem J 2004; 382: 331-6.
    • (2004) Biochem J , vol.382 , pp. 331-336
    • Xu, F.1    Morin, C.2    Mitchell, G.3    Ackerley, C.4    Robinson, B.H.5
  • 25
    • 9144268494 scopus 로고    scopus 로고
    • Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation
    • Miller C, Saada A, Shaul N, Shabtai N, Ben-Shalom E, Shaag A, et al. Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. Ann Neurol 2004; 56: 734-8.
    • (2004) Ann Neurol , vol.56 , pp. 734-738
    • Miller, C.1    Saada, A.2    Shaul, N.3    Shabtai, N.4    Ben-Shalom, E.5    Shaag, A.6
  • 26
    • 8344259033 scopus 로고    scopus 로고
    • Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency
    • Coenen MJ, Antonicka H, Ugalde C, Sasarman F, Rossi R, Heister JG, et al. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N Engl J Med 2004; 351: 2080-6.
    • (2004) N Engl J Med , vol.351 , pp. 2080-2086
    • Coenen, M.J.1    Antonicka, H.2    Ugalde, C.3    Sasarman, F.4    Rossi, R.5    Heister, J.G.6
  • 27
    • 21244449941 scopus 로고    scopus 로고
    • Mitochondrial myopathy and sideroblastic anemia (MLASA): Missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA psedouridylation
    • Patton JR, Bykhovskaya Y, Mengesha E, Bertolotto C, Fischel-Ghodsian N. Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA psedouridylation. J Biol Chem 2005; 280: 823-8.
    • (2005) J Biol Chem , vol.280 , pp. 823-828
    • Patton, J.R.1    Bykhovskaya, Y.2    Mengesha, E.3    Bertolotto, C.4    Fischel-Ghodsian, N.5
  • 28
    • 0038714406 scopus 로고    scopus 로고
    • Truncated product of the bifunctional DLST gene involved in biogenesis of the respiratory chain
    • Kanamori T, Nishimaki K, Asoh S, Ishibashi Y, Takata I, Kuwabara T, et al. Truncated product of the bifunctional DLST gene involved in biogenesis of the respiratory chain. EMBO J 2003; 22: 2913-23.
    • (2003) EMBO J , vol.22 , pp. 2913-2923
    • Kanamori, T.1    Nishimaki, K.2    Asoh, S.3    Ishibashi, Y.4    Takata, I.5    Kuwabara, T.6
  • 29
    • 20444364919 scopus 로고    scopus 로고
    • Characterization of lymphoblast mitochondria from patients with Barth syndrome
    • Xu Y, Sutachan JJ, Plesken H, Kelley RI, Schlame M. Characterization of lymphoblast mitochondria from patients with Barth syndrome. Lab Invest 2005; 85: 831.
    • (2005) Lab Invest , vol.85 , pp. 831
    • Xu, Y.1    Sutachan, J.J.2    Plesken, H.3    Kelley, R.I.4    Schlame, M.5
  • 30
    • 0032509149 scopus 로고    scopus 로고
    • Myophosphorylase deficiency associated with a defect in complex I of the mitochondrial respiratory chain
    • Rubio JC, Martin MA, Bautista J, Campos Y, Segura D, Cabello A, et al. Myophosphorylase deficiency associated with a defect in complex I of the mitochondrial respiratory chain. J Neurol Sci 1998; 161: 110-3.
    • (1998) J Neurol Sci , vol.161 , pp. 110-113
    • Rubio, J.C.1    Martin, M.A.2    Bautista, J.3    Campos, Y.4    Segura, D.5    Cabello, A.6
  • 31
    • 0033832914 scopus 로고    scopus 로고
    • A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I
    • Scharfe C, Hauschild M, Klopstock T, Janssen AJ, Heidemann PH, Meitinger T, et al. A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. J Med Genet 2000; 37: 669-73.
    • (2000) J Med Genet , vol.37 , pp. 669-673
    • Scharfe, C.1    Hauschild, M.2    Klopstock, T.3    Janssen, A.J.4    Heidemann, P.H.5    Meitinger, T.6
  • 32
    • 0030273410 scopus 로고    scopus 로고
    • Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation
    • Tyni T, Majander A, Kalimo H, Rapola J, Pihko H. Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation. Neuromuscul Disord 1996; 6: 327-37.
    • (1996) Neuromuscul Disord , vol.6 , pp. 327-337
    • Tyni, T.1    Majander, A.2    Kalimo, H.3    Rapola, J.4    Pihko, H.5
  • 33
    • 0020680904 scopus 로고
    • Chronic parkinsonism in humans due to a product of meperidine-analog synthesis
    • Langston JW, Ballard P, Tetrud JW, Irwin I. Chronic parkinsonism in humans due to a product of meperidine-analog synthesis. Science 1983; 219: 979-80.
    • (1983) Science , vol.219 , pp. 979-980
    • Langston, J.W.1    Ballard, P.2    Tetrud, J.W.3    Irwin, I.4
  • 34
    • 0141533187 scopus 로고    scopus 로고
    • The mitochondrial complex I inhibitor annonacin is toxic to mesencephalic dopaminergic neurons by impairment of energy metabolism
    • Lannuzel A, Michel PP, Hoglinger GU, Champy P, Jousset A, Medja F, et al. The mitochondrial complex I inhibitor annonacin is toxic to mesencephalic dopaminergic neurons by impairment of energy metabolism. Neuroscience 2003; 121: 287-96.
    • (2003) Neuroscience , vol.121 , pp. 287-296
    • Lannuzel, A.1    Michel, P.P.2    Hoglinger, G.U.3    Champy, P.4    Jousset, A.5    Medja, F.6
  • 35
    • 0036051323 scopus 로고    scopus 로고
    • Effects of HMG-CoA reductase inhibitors on skeletal muscle: Are all statins the same?
    • Evans M, Rees A. Effects of HMG-CoA reductase inhibitors on skeletal muscle: are all statins the same?. Drug Safe 2002; 25: 649-63.
    • (2002) Drug Safe , vol.25 , pp. 649-663
    • Evans, M.1    Rees, A.2
  • 38
    • 0043066954 scopus 로고    scopus 로고
    • Increased variation in mtDNA in patients with familial sensorineural hearing impairment
    • Lehtonen MS, Moilanen JS, Majamaa K. Increased variation in mtDNA in patients with familial sensorineural hearing impairment. Hum Genet 2003; 113: 220-7.
    • (2003) Hum Genet , vol.113 , pp. 220-227
    • Lehtonen, M.S.1    Moilanen, J.S.2    Majamaa, K.3
  • 39
    • 0032612858 scopus 로고    scopus 로고
    • Mitochondrial DNA variations in patients with type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population. Mutation in brief no. 239
    • Sherratt EJ, Thomas AW, Gagg JW, Majid A, Alcolado JC. Mitochondrial DNA variations in patients with type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population. Mutation in brief no. 239. Hum Mutat 1999; 13: 412-3.
    • (1999) Hum Mutat , vol.13 , pp. 412-413
    • Sherratt, E.J.1    Thomas, A.W.2    Gagg, J.W.3    Majid, A.4    Alcolado, J.C.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.