메뉴 건너뛰기




Volumn 250, Issue 3, 2003, Pages 267-277

Mitochondrial cytopathies

Author keywords

Lactic acidosis; Mitochondrial cytopathy; MtDNA; Ragged red fibres; Respiratory chain

Indexed keywords

ALPHA TOCOPHEROL; ANTIOXIDANT; ASCORBIC ACID; BIOTIN; MITOCHONDRIAL DNA; RIBOFLAVIN; THIAMINE; UBIDECARENONE; UBIQUINONE;

EID: 0037357225     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00415-003-0978-3     Document Type: Review
Times cited : (143)

References (67)
  • 1
    • 0028918471 scopus 로고
    • Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects
    • Anan R, Nakagawa M, Miyata M, Higuchi I, Nakao S, Suehara M, Osame M, Tanaka H (1995) Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation 91(4):955-961
    • (1995) Circulation , vol.91 , Issue.4 , pp. 955-961
    • Anan, R.1    Nakagawa, M.2    Miyata, M.3    Higuchi, I.4    Nakao, S.5    Suehara, M.6    Osame, M.7    Tanaka, H.8
  • 8
    • 0025885770 scopus 로고
    • Replication and transcription of vertebrate mitochondrial DNA
    • Clayton DA (1992) Replication and transcription of vertebrate mitochondrial DNA. Annu Rev Cell Biol 7:453-478
    • (1992) Annu Rev Cell Biol , vol.7 , pp. 453-478
    • Clayton, D.A.1
  • 10
    • 0034956801 scopus 로고    scopus 로고
    • Epidemiology and Treatment of mitochondrial disorders
    • Chinnery PF, Turnbull DM (2001) Epidemiology and Treatment of mitochondrial disorders. Am J Med Gen 106:94-101
    • (2001) Am J Med Gen , vol.106 , pp. 94-101
    • Chinnery, P.F.1    Turnbull, D.M.2
  • 11
    • 0025968499 scopus 로고
    • In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria
    • Chomyn A, Meola G, Bresolin N, Lai ST, S carlato G, Attardi G (1991) In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria. Molec Cell Biol 11:2236-2244
    • (1991) Molec Cell Biol , vol.11 , pp. 2236-2244
    • Chomyn, A.1    Meola, G.2    Bresolin, N.3    Lai, S.T.4    Scarlato, G.5    Attardi, G.6
  • 13
    • 0030779110 scopus 로고    scopus 로고
    • Pathophysiology of the MELAS 3243 transition mutation
    • Flierl A, Reichmann H, Seibel P (1997) Pathophysiology of the MELAS 3243 transition mutation. J Biol Chem 272(43):27189-27196
    • (1997) J Biol Chem , vol.272 , Issue.43 , pp. 27189-27196
    • Flierl, A.1    Reichmann, H.2    Seibel, P.3
  • 15
    • 0029948495 scopus 로고    scopus 로고
    • Phosphorus magnetic resonance spectroscopy in the evaluation of mitochondrial myopathies: Results of a 6-month therapy study with coenzyme Q
    • Gold R, Seibel P, Reinelt G, Schindler R, Landwehr P, Beck A, Reichmann H (1996) Phosphorus magnetic resonance spectroscopy in the evaluation of mitochondrial myopathies: results of a 6-month therapy study with coenzyme Q. Eur Neurol 36:191-196
    • (1996) Eur Neurol , vol.36 , pp. 191-196
    • Gold, R.1    Seibel, P.2    Reinelt, G.3    Schindler, R.4    Landwehr, P.5    Beck, A.6    Reichmann, H.7
  • 16
    • 0033945199 scopus 로고    scopus 로고
    • Defects of intergenomic communication: Where do we stand?
    • Hirano M, Vu TH (2000) Defects of intergenomic communication: where do we stand? BrainPathol 10(3):451-461
    • (2000) BrainPathol , vol.10 , Issue.3 , pp. 451-461
    • Hirano, M.1    Vu, T.H.2
  • 18
    • 0023883150 scopus 로고
    • Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • Holt U, Harding AE, Morgan-Hughes JA (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331:717-719
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, U.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 20
    • 0033365348 scopus 로고    scopus 로고
    • A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia
    • Kaukonen J, Zeviani M, Comi GP, Piscaglia MG, Peltonen L, Suomalainen A (1999) A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. Am J Hum Genet 65:256-261
    • (1999) Am J Hum Genet , vol.65 , pp. 256-261
    • Kaukonen, J.1    Zeviani, M.2    Comi, G.P.3    Piscaglia, M.G.4    Peltonen, L.5    Suomalainen, A.6
  • 21
    • 84924635809 scopus 로고
    • Retinitis pigmentosa, external ophthalmoplegia and complete heart block
    • Kearns TP, Sayre GP (1958) Retinitis pigmentosa, external ophthalmoplegia and complete heart block. Ophthalmology 60:280-289
    • (1958) Ophthalmology , vol.60 , pp. 280-289
    • Kearns, T.P.1    Sayre, G.P.2
  • 22
    • 0033913992 scopus 로고    scopus 로고
    • Mitochondrial cytopathies represent a risk factor for valproate-induced fulminant liver failure
    • Krähenbühl S, Brandner S, Kleinle S, Liechtis S, Straumann O (2000) Mitochondrial cytopathies represent a risk factor for valproate-induced fulminant liver failure. Liver 20:346-348
    • (2000) Liver , vol.20 , pp. 346-348
    • Krähenbühl, S.1    Brandner, S.2    Kleinle, S.3    Liechtis, S.4    Straumann, O.5
  • 23
  • 26
    • 0034943090 scopus 로고    scopus 로고
    • Discordance between cerebral oxygen and glucose metabolism, and hemodynamics in a mitochondrial encephalomyopathy, lactic acidosis, and strokelike episode patient
    • Nariai T, Ohno K, Ohta Y, Hirakawa K, Ishii K, Senda M (2001) Discordance between cerebral oxygen and glucose metabolism, and hemodynamics in a mitochondrial encephalomyopathy, lactic acidosis, and strokelike episode patient. J Neuroimaging 11(3):325-329
    • (2001) J Neuroimaging , vol.11 , Issue.3 , pp. 325-329
    • Nariai, T.1    Ohno, K.2    Ohta, Y.3    Hirakawa, K.4    Ishii, K.5    Senda, M.6
  • 28
    • 0021913432 scopus 로고
    • Pre-excitation syndrome and Leber's hereditary optic neuroretinopathy
    • Nikoskelainen E, Wanne O, Dahl M (1985) Pre-excitation syndrome and Leber's hereditary optic neuroretinopathy. Lancet 1:696
    • (1985) Lancet , vol.1 , pp. 696
    • Nikoskelainen, E.1    Wanne, O.2    Dahl, M.3
  • 29
    • 0036544631 scopus 로고    scopus 로고
    • Rescue of a deficiency in ATP synthesis by transfer of MTA TP6, a mitochondrial DNA-encoded gene, to the nucleus
    • Manfredi G, Fu J, Ojaimi J, Sadlock JE, Kwang JQ, Guy J, Schon EA (2002) Rescue of a deficiency in ATP synthesis by transfer of MTA TP6, a mitochondrial DNA-encoded gene, to the nucleus. Nature Genetics 30:394-399
    • (2002) Nature Genetics , vol.30 , pp. 394-399
    • Manfredi, G.1    Fu, J.2    Ojaimi, J.3    Sadlock, J.E.4    Kwang, J.Q.5    Guy, J.6    Schon, E.A.7
  • 30
    • 0030454025 scopus 로고    scopus 로고
    • High incidence of preexcitation syndrome in Japanese families with Leber's hereditary optic neuropathy
    • Mashima Y, Kigasawa K, Hasegawa H, Tani M, Oguchi Y (1996) High incidence of preexcitation syndrome in Japanese families with Leber's hereditary optic neuropathy. Clin Genet 50:535-537
    • (1996) Clin Genet , vol.50 , pp. 535-537
    • Mashima, Y.1    Kigasawa, K.2    Hasegawa, H.3    Tani, M.4    Oguchi, Y.5
  • 31
    • 84975452084 scopus 로고    scopus 로고
    • Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy?
    • Mashima Y, Kigasawa K, Wakakura M, Oguchi Y (2000) Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy? J Neuroophthalmol 20:166-170
    • (2000) J Neuroophthalmol , vol.20 , pp. 166-170
    • Mashima, Y.1    Kigasawa, K.2    Wakakura, M.3    Oguchi, Y.4
  • 33
    • 0018784261 scopus 로고
    • Keilins respiratory chain concept and its chemiosmotic consequences
    • Mitchell P (1979) Keilins respiratory chain concept and its chemiosmotic consequences. Sience 206:1148-1159
    • (1979) Sience , vol.206 , pp. 1148-1159
    • Mitchell, P.1
  • 35
    • 0036240536 scopus 로고    scopus 로고
    • Mitochondrial defects and anaesthetic sensitivity
    • Morgan PG, Hoppel CL, Sedensky (2002) Mitochondrial defects and anaesthetic sensitivity. Anesthesiology 96:1268-1270
    • (2002) Anesthesiology , vol.96 , pp. 1268-1270
    • Morgan, P.G.1    Hoppel, C.L.2    Sedensky3
  • 37
    • 0032037760 scopus 로고    scopus 로고
    • Mitochondrial genetics '98: Is the bottleneck cracked?
    • Poulton J, Macaulay V, Marchington DR (1998) Mitochondrial genetics '98: Is the bottleneck cracked? Am J Hum Genet 62:752-757
    • (1998) Am J Hum Genet , vol.62 , pp. 752-757
    • Poulton, J.1    Macaulay, V.2    Marchington, D.R.3
  • 40
    • 0034849595 scopus 로고    scopus 로고
    • Diagnostic yield muscle biopsy in patients with clinical evidence of mitochondrial cytopathy
    • Rollins S, Prayson RA, McMahon JT, Cohen BH (2001) Diagnostic yield muscle biopsy in patients with clinical evidence of mitochondrial cytopathy. Am J Clin Pathol 116(3):326-330
    • (2001) Am J Clin Pathol , vol.116 , Issue.3 , pp. 326-330
    • Rollins, S.1    Prayson, R.A.2    McMahon, J.T.3    Cohen, B.H.4
  • 41
    • 0027526665 scopus 로고
    • Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300)
    • Rotig A, Cormier V, Chatelain P, François R, Saudubray JM, Rustin P, Munnich A (1993) Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). J Clin Invest 91:1095-1098
    • (1993) J Clin Invest , vol.91 , pp. 1095-1098
    • Rotig, A.1    Cormier, V.2    Chatelain, P.3    François, R.4    Saudubray, J.M.5    Rustin, P.6    Munnich, A.7
  • 43
    • 0028804570 scopus 로고
    • Transfection of mitochondria: Strategy towards a gene therapy of mitochondrial DNA diseases
    • Seibel P, Trappe J, Villani G, Klopstock T, Papa S, Reichmann H (1995) Transfection of mitochondria: strategy towards a gene therapy of mitochondrial DNA diseases. Nucleic AcidsRes 23:10-17
    • (1995) Nucleic AcidsRes , vol.23 , pp. 10-17
    • Seibel, P.1    Trappe, J.2    Villani, G.3    Klopstock, T.4    Papa, S.5    Reichmann, H.6
  • 44
    • 0035968125 scopus 로고    scopus 로고
    • Non-invasive visualization of sperm mitochondria behaviour in transgenic mice with introduced green fluorescent protein (GFP)
    • Shitara H, Kaneda H, Sato A, Iwasaki K, Hayashi J-I, Taya C, Yonekawa H (2001) Non-invasive visualization of sperm mitochondria behaviour in transgenic mice with introduced green fluorescent protein (GFP). FEBS Letters 500:7-11
    • (2001) FEBS Letters , vol.500 , pp. 7-11
    • Shitara, H.1    Kaneda, H.2    Sato, A.3    Iwasaki, K.4    Hayashi, J.-I.5    Taya, C.6    Yonekawa, H.7
  • 45
    • 0025371499 scopus 로고
    • Oxidative phosphorylation diseases: Disorders of two genomes
    • Shoffner JM,Wallace DC (1990) Oxidative phosphorylation diseases: disorders of two genomes. Adv Hum Genet 19:267-330
    • (1990) Adv Hum Genet , vol.19 , pp. 267-330
    • Shoffner, J.M.1    Wallace, D.C.2
  • 46
    • 0026688649 scopus 로고
    • A new mtDNA mutation in the tRNALys gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)
    • Silvestri G, Moraes CT, Shanske S, Oh SJ, DiMauro S (1992) A new mtDNA mutation in the tRNALys gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 51(6):1213-1217
    • (1992) Am J Hum Genet , vol.51 , Issue.6 , pp. 1213-1217
    • Silvestri, G.1    Moraes, C.T.2    Shanske, S.3    Oh, S.J.4    DiMauro, S.5
  • 47
    • 0033358590 scopus 로고    scopus 로고
    • Human mitochondrial complex I in health and disease
    • Smeitink J, van den Heuvel L (1999) Human mitochondrial complex I in health and disease. Am J Hum Genet 64:1505-1510
    • (1999) Am J Hum Genet , vol.64 , pp. 1505-1510
    • Smeitink, J.1    Van Den Heuvel, L.2
  • 48
    • 0035894698 scopus 로고    scopus 로고
    • Manipulating mitochondrial DNA heteroplasmy by a mitochondrial targeted endonuclease
    • Srivastava S, Moraes CT (2001) Manipulating mitochondrial DNA heteroplasmy by a mitochondrial targeted endonuclease. Human Mol Genet 10:3093-3099
    • (2001) Human Mol Genet , vol.10 , pp. 3093-3099
    • Srivastava, S.1    Moraes, C.T.2
  • 49
    • 0033916718 scopus 로고    scopus 로고
    • Mitochondrial respiratory chain diseases and mutations in nuclear DNA: A promising Start?
    • Sue C, Schon E (2000) Mitochondrial respiratory chain diseases and mutations in nuclear DNA: a promising Start? Brain Pathol 10(3):442-450
    • (2000) Brain Pathol , vol.10 , Issue.3 , pp. 442-450
    • Sue, C.1    Schon, E.2
  • 52
    • 0033883489 scopus 로고    scopus 로고
    • Ubiquitinated sperm mitochondria, selective proteolysis and the regulation of mitochondrial inheritance in mammalian embryos
    • Sutovsky P, Moreno RD, Ramalho-Santos J, Dominko T, Simerly C, Schatten G (2000) Ubiquitinated sperm mitochondria, selective proteolysis and the regulation of mitochondrial inheritance in mammalian embryos. Biol of Reproduct 63:582-590
    • (2000) Biol of Reproduct , vol.63 , pp. 582-590
    • Sutovsky, P.1    Moreno, R.D.2    Ramalho-Santos, J.3    Dominko, T.4    Simerly, C.5    Schatten, G.6
  • 53
    • 0035222587 scopus 로고    scopus 로고
    • Optical imaging techniques (histochemical, immunohistochemi-cal, and in situ hybridization staining methods) to visualize mitochondria
    • Tanji K, Bonilla E (2001) Optical imaging techniques (histochemical, immunohistochemi-cal, and in situ hybridization staining methods) to visualize mitochondria. Methods Cell Biol 65:311-332
    • (2001) Methods Cell Biol , vol.65 , pp. 311-332
    • Tanji, K.1    Bonilla, E.2
  • 54
    • 0035880910 scopus 로고    scopus 로고
    • Linked oligodeoxynucleotides show binding cooperativity and can selectively impair replication of deleted mitochondrial DNA templates
    • Taylor RW, Wardell TM, Connolly BA, Turnbull DM, Lightowlers RN (2001) Linked oligodeoxynucleotides show binding cooperativity and can selectively impair replication of deleted mitochondrial DNA templates. Nucleic Acids Res 29(16):3404-3412
    • (2001) Nucleic Acids Res , vol.29 , Issue.16 , pp. 3404-3412
    • Taylor, R.W.1    Wardell, T.M.2    Connolly, B.A.3    Turnbull, D.M.4    Lightowlers, R.N.5
  • 56
    • 0034949930 scopus 로고    scopus 로고
    • Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options
    • Thorburn DR, Dahl HH (2001) Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. Am J Med Genet 106(1):102-114
    • (2001) Am J Med Genet , vol.106 , Issue.1 , pp. 102-114
    • Thorburn, D.R.1    Dahl, H.H.2
  • 58
    • 0022555846 scopus 로고
    • Genetics of mitochondria biogenesis
    • Tzagoloff A, Myers AM (1986) Genetics of mitochondria biogenesis. Annu Rev Biochem 55:249-285
    • (1986) Annu Rev Biochem , vol.55 , pp. 249-285
    • Tzagoloff, A.1    Myers, A.M.2
  • 60
    • 0033879510 scopus 로고    scopus 로고
    • Mitochondrial mutations of Leber's hereditary optic neuropathy: A risk factor for multiple sclerosis
    • Vanopdenbosch L, Dubois B, D'Hooghe MB, Meire F, Carton H (2000) Mitochondrial mutations of Leber's hereditary optic neuropathy: a risk factor for multiple sclerosis. J Neurol 247(7):535-543
    • (2000) J Neurol , vol.247 , Issue.7 , pp. 535-543
    • Vanopdenbosch, L.1    Dubois, B.2    D'Hooghe, M.B.3    Meire, F.4    Carton, H.5
  • 61
    • 0037029132 scopus 로고    scopus 로고
    • Mitochondrial DNA repair of oxidative damage in mammalian cells
    • Vilhelm A Bohr, Tinna Stevnsner, Nadja C de Souza-Pinto (2002) Mitochondrial DNA repair of oxidative damage in mammalian cells. Gene 286:127-134
    • (2002) Gene , vol.286 , pp. 127-134
    • Vilhelm, A.B.1    Tinna Stevnsner2    Nadja, C.D.S.-P.3
  • 62
    • 0024163051 scopus 로고
    • Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease
    • Wallace DC, Zheng X, Lott MT, Shoffner JM, Hodge JA, Kelley RI, Epstein CM, Hopkins LC (1988) Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell 55:601-610
    • (1988) Cell , vol.55 , pp. 601-610
    • Wallace, D.C.1    Zheng, X.2    Lott, M.T.3    Shoffner, J.M.4    Hodge, J.A.5    Kelley, R.I.6    Epstein, C.M.7    Hopkins, L.C.8
  • 66
    • 0024601360 scopus 로고
    • An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
    • Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S (1989) An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 339:309-311
    • (1989) Nature , vol.339 , pp. 309-311
    • Zeviani, M.1    Servidei, S.2    Gellera, C.3    Bertini, E.4    DiMauro, S.5    DiDonato, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.