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Volumn 27, Issue 1-3, 2007, Pages 125-137

Mitochondrial diseases: Therapeutic approaches

Author keywords

Mitochondrial diseases; mtDNA; Therapy

Indexed keywords

ANTICONVULSIVE AGENT; CARNITINE; CELL NUCLEUS DNA; CHLORAMPHENICOL; FOLIC ACID; MITOCHONDRIAL DNA; REACTIVE OXYGEN METABOLITE; RIBOFLAVIN; THIAMINE; THYMIDINE KINASE; UBIDECARENONE;

EID: 34250676955     PISSN: 01448463     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10540-007-9041-4     Document Type: Conference Paper
Times cited : (104)

References (64)
  • 2
    • 0033401240 scopus 로고    scopus 로고
    • Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome
    • Andrews RM, Griffiths PG, Chinnery PF, Turnbull DM (1999) Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. Eye 13:769-772
    • (1999) Eye , vol.13 , pp. 769-772
    • Andrews, R.M.1    Griffiths, P.G.2    Chinnery, P.F.3    Turnbull, D.M.4
  • 3
    • 0022545789 scopus 로고
    • Treatment of mitochondrial myopathy due to complex III deficiency with vitamins K3 and C: A 31P-NMR follow-up study
    • Argov Z, Bank WJ, Maris J, Eleff S, Kennaway NG, Olson RE, Chance B (1986) Treatment of mitochondrial myopathy due to complex III deficiency with vitamins K3 and C: A 31P-NMR follow-up study. Ann Neurol 19:598-602
    • (1986) Ann Neurol , vol.19 , pp. 598-602
    • Argov, Z.1    Bank, W.J.2    Maris, J.3    Eleff, S.4    Kennaway, N.G.5    Olson, R.E.6    Chance, B.7
  • 4
    • 0035914437 scopus 로고    scopus 로고
    • Lack of complex I activity in human cells carrying a mutation in MtDNA-encoded ND4 subunit is corrected by the Saccharomyces cerevisiae NADH-quinone oxidoreductase (NDI1) gene
    • Bai Y, Hajek P, Chomyn A, Chan E, Seo BB, Matsuno-Yagi A, Yagi T, Attardi G (2001) Lack of complex I activity in human cells carrying a mutation in MtDNA-encoded ND4 subunit is corrected by the Saccharomyces cerevisiae NADH-quinone oxidoreductase (NDI1) gene. J Biol Chem 276:38808-38813
    • (2001) J Biol Chem , vol.276 , pp. 38808-38813
    • Bai, Y.1    Hajek, P.2    Chomyn, A.3    Chan, E.4    Seo, B.B.5    Matsuno-Yagi, A.6    Yagi, T.7    Attardi, G.8
  • 5
    • 0035104763 scopus 로고    scopus 로고
    • Mitochondria in human offspring derived from ooplasmic transplantation
    • Barritt JA, Brenner CA, Malter HE, Cohen J (2001) Mitochondria in human offspring derived from ooplasmic transplantation. Hum Reprod 16:513-516
    • (2001) Hum Reprod , vol.16 , pp. 513-516
    • Barritt, J.A.1    Brenner, C.A.2    Malter, H.E.3    Cohen, J.4
  • 6
    • 26444545053 scopus 로고    scopus 로고
    • Rapid directional shift of mitochondrial DNA heteroplasmy in animal tissues by a mitochondrially targeted restriction endonuclease
    • Bayona-Bafaluy MP, Blits B, Battersby BJ, Shoubridge EA, Moraes CT (2005) Rapid directional shift of mitochondrial DNA heteroplasmy in animal tissues by a mitochondrially targeted restriction endonuclease. Proc Natl Acad Sci USA 102:14392-14397
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 14392-14397
    • Bayona-Bafaluy, M.P.1    Blits, B.2    Battersby, B.J.3    Shoubridge, E.A.4    Moraes, C.T.5
  • 7
    • 25444474703 scopus 로고    scopus 로고
    • Mitochondria take center stage in aging and neurodegeneration
    • Beal MF (2005) Mitochondria take center stage in aging and neurodegeneration. Ann Neurol 58:495-505
    • (2005) Ann Neurol , vol.58 , pp. 495-505
    • Beal, M.F.1
  • 8
    • 0027497228 scopus 로고
    • Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome
    • Bernes SM, Bacino C, Prezant TR, Pearson MA, Wood TS, Fournier P, Fischel-Ghodsian N (1993) Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome. J Pediatr 123:598-602
    • (1993) J Pediatr , vol.123 , pp. 598-602
    • Bernes, S.M.1    Bacino, C.2    Prezant, T.R.3    Pearson, M.A.4    Wood, T.S.5    Fournier, P.6    Fischel-Ghodsian, N.7
  • 9
    • 0029996721 scopus 로고    scopus 로고
    • Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy
    • Bohlega S, Tanji K, Santorelli FM, Hirano M, al-Jishi A, DiMauro S (1996) Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 46:1329-1334
    • (1996) Neurology , vol.46 , pp. 1329-1334
    • Bohlega, S.1    Tanji, K.2    Santorelli, F.M.3    Hirano, M.4    Al-Jishi, A.5    Dimauro, S.6
  • 13
    • 0001657015 scopus 로고    scopus 로고
    • Mitochondrial diseases
    • Swaiman KF, Ashwal S (eds) St. Louis, Mosby
    • De Vivo DC, DiMauro S (1999) Mitochondrial diseases. In: Swaiman KF, Ashwal S (eds) Pediatric neurology: principles & practice, vol 1. St. Louis, Mosby, pp 494-509
    • (1999) Pediatric Neurology: Principles & Practice , vol.1 , pp. 494-509
    • De Vivo, D.C.1    DiMauro, S.2
  • 15
    • 0037972522 scopus 로고    scopus 로고
    • Mitochondrial respiratory-chain diseases
    • DiMauro S, Schon EA (2003) Mitochondrial respiratory-chain diseases. N Engl J Med 348:2656-2668
    • (2003) N Engl J Med , vol.348 , pp. 2656-2668
    • Dimauro, S.1    Schon, E.A.2
  • 16
  • 19
    • 0021449807 scopus 로고
    • 31P-NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle
    • Eleff S, Kennaway NG, Buist NR, Darley-Usmar VM, Capaldi RA, Bank WJ, Chance B (1984) 31P-NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle. Proc Natl Acad Sci USA 81:3529-3533
    • (1984) Proc Natl Acad Sci USA , vol.81 , pp. 3529-3533
    • Eleff, S.1    Kennaway, N.G.2    Buist, N.R.3    Darley-Usmar, V.M.4    Capaldi, R.A.5    Bank, W.J.6    Chance, B.7
  • 21
    • 0029658242 scopus 로고    scopus 로고
    • A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy
    • Fu K, Hartlen R, Johns T, Genge A, Karpati G, Shoubridge EA (1996) A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. Hum Mol Genet 5:1835-1840
    • (1996) Hum Mol Genet , vol.5 , pp. 1835-1840
    • Fu, K.1    Hartlen, R.2    Johns, T.3    Genge, A.4    Karpati, G.5    Shoubridge, E.A.6
  • 28
    • 0033659683 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene
    • Keightley JA, Anitori R, Burton MD, Quan F, Buist NR, Kennaway NG (2000) Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. Am J Hum Genet 67:1400-1410
    • (2000) Am J Hum Genet , vol.67 , pp. 1400-1410
    • Keightley, J.A.1    Anitori, R.2    Burton, M.D.3    Quan, F.4    Buist, N.R.5    Kennaway, N.G.6
  • 33
    • 0036544631 scopus 로고    scopus 로고
    • Rescue of an ATP synthesis deficiency in mtDNA-mutant human cells by transfer of MTATP6, a mtDNA-encoded gene, to the nucleus
    • Manfredi G, Fu J, Ojaimi J, Sadlock JE, Kwong JQ, Guy J, Schon EA (2002) Rescue of an ATP synthesis deficiency in mtDNA-mutant human cells by transfer of MTATP6, a mtDNA-encoded gene, to the nucleus. Nat Genet 30:394-399
    • (2002) Nat Genet , vol.30 , pp. 394-399
    • Manfredi, G.1    Fu, J.2    Ojaimi, J.3    Sadlock, J.E.4    Kwong, J.Q.5    Guy, J.6    Schon, E.A.7
  • 34
    • 0033515548 scopus 로고    scopus 로고
    • Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene
    • Manfredi G, Gupta N, Vazquez-Memije ME, Sadlock JE, Spinazzola A, De Vivo DC, Schon EA (1999) Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene. J Biol Chem 274:9386-9391
    • (1999) J Biol Chem , vol.274 , pp. 9386-9391
    • Manfredi, G.1    Gupta, N.2    Vazquez-Memije, M.E.3    Sadlock, J.E.4    Spinazzola, A.5    De Vivo, D.C.6    Schon, E.A.7
  • 35
    • 0026357893 scopus 로고
    • Muscle coenzyme Q10 in mitochondrial encephalomyopathies
    • Matsuoka T, Maeda H, Goto Y, Nonaka I (1992) Muscle coenzyme Q10 in mitochondrial encephalomyopathies. Neuromuscul Disord 1:443-447
    • (1992) Neuromuscul Disord , vol.1 , pp. 443-447
    • Matsuoka, T.1    Maeda, H.2    Goto, Y.3    Nonaka, I.4
  • 38
    • 0036855408 scopus 로고    scopus 로고
    • An algal nucleus-encoded subunit of mitochondrial ATP synthase rescues a defect in the analogous human mitochondrial-encoded subunit
    • Ojaimi J, Pan J, Santra S, Snell WJ, Schon EA (2002) An algal nucleus-encoded subunit of mitochondrial ATP synthase rescues a defect in the analogous human mitochondrial-encoded subunit. Mol Biol Cell 13:3836-3844
    • (2002) Mol Biol Cell , vol.13 , pp. 3836-3844
    • Ojaimi, J.1    Pan, J.2    Santra, S.3    Snell, W.J.4    Schon, E.A.5
  • 41
    • 0037337634 scopus 로고    scopus 로고
    • Optic neuropathy induced by reductions in mitochondrial superoxide dismutase
    • Qi X, Lewin AS, Hauswirth WW, Guy J (2003) Optic neuropathy induced by reductions in mitochondrial superoxide dismutase. Invest Ophthalmol Vis Sci 44:1088-1096
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 1088-1096
    • Qi, X.1    Lewin, A.S.2    Hauswirth, W.W.3    Guy, J.4
  • 42
    • 0037310673 scopus 로고    scopus 로고
    • Suppression of complex I gene expression induces optic neuropathy
    • Qi X, Lewin AS, Hauswirth WW, Guy J (2003) Suppression of complex I gene expression induces optic neuropathy. Ann Neurol 53:198-205
    • (2003) Ann Neurol , vol.53 , pp. 198-205
    • Qi, X.1    Lewin, A.S.2    Hauswirth, W.W.3    Guy, J.4
  • 43
    • 3843127507 scopus 로고    scopus 로고
    • SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I
    • Qi X, Lewin AS, Sun L, Hauswirth WW, Guy J (2004) SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I. Ann Neurol 56:182-191
    • (2004) Ann Neurol , vol.56 , pp. 182-191
    • Qi, X.1    Lewin, A.S.2    Sun, L.3    Hauswirth, W.W.4    Guy, J.5
  • 45
    • 0037090630 scopus 로고    scopus 로고
    • Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations
    • Salviati L, Hernandez-Rosa E, Walker WF, Sacconi S, DiMauro S, Schon EA, Davidson MM (2002a) Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations. Biochem J 363:321-327
    • (2002) Biochem J , vol.363 , pp. 321-327
    • Salviati, L.1    Hernandez-Rosa, E.2    Walker, W.F.3    Sacconi, S.4    Dimauro, S.5    Schon, E.A.6    Davidson, M.M.7
  • 48
    • 9144268527 scopus 로고    scopus 로고
    • Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells
    • Santra S, Gilkerson RW, Davidson MM, Schon EA (2004) Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells. Ann Neurol 56:662-669
    • (2004) Ann Neurol , vol.56 , pp. 662-669
    • Santra, S.1    Gilkerson, R.W.2    Davidson, M.M.3    Schon, E.A.4
  • 49
    • 0032483007 scopus 로고    scopus 로고
    • Molecular remedy of complex I defects: Rotenone-insensitive internal NADH-quinone oxidoreductase of Saccharomyces cerevisiae mitochondria restores the NADH oxidase activity of complex I-deficient mammalian cells
    • Seo BB, Kitajima-Ihara T, Chan EK, Scheffler IE, Matsuno-Yagi A, Yagi T (1998) Molecular remedy of complex I defects: rotenone-insensitive internal NADH-quinone oxidoreductase of Saccharomyces cerevisiae mitochondria restores the NADH oxidase activity of complex I-deficient mammalian cells. Proc Natl Acad Sci USA 95:9167-9171
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 9167-9171
    • Seo, B.B.1    Kitajima-Ihara, T.2    Chan, E.K.3    Scheffler, I.E.4    Matsuno-Yagi, A.5    Yagi, T.6
  • 51
    • 0030779230 scopus 로고    scopus 로고
    • Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibers in a patient with a tRNA point mutation and mitochondrial encephalomyopathy
    • Shoubridge EA, Johns T, Karpati G (1997) Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibers in a patient with a tRNA point mutation and mitochondrial encephalomyopathy. Hum Mol Genet 6:2239-2242
    • (1997) Hum Mol Genet , vol.6 , pp. 2239-2242
    • Shoubridge, E.A.1    Johns, T.2    Karpati, G.3
  • 54
    • 0024452528 scopus 로고
    • The pharmacology of dichloroacetate
    • Stacpoole PW (1989) The pharmacology of dichloroacetate. Metabolism 38:1124-1144
    • (1989) Metabolism , vol.38 , pp. 1124-1144
    • Stacpoole, P.W.1
  • 56
    • 0042632468 scopus 로고    scopus 로고
    • Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts
    • Taanman JW, Muddle JR, Muntau AC (2003) Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts. Hum Mol Genet 12:1839-1845
    • (2003) Hum Mol Genet , vol.12 , pp. 1839-1845
    • Taanman, J.W.1    Muddle, J.R.2    Muntau, A.C.3
  • 57
    • 9644294246 scopus 로고    scopus 로고
    • Implications of exercise training in mtDNA defects-use or lose it?
    • Taivassalo T, Haller RG (2004) Implications of exercise training in mtDNA defects-use or lose it? Biochim Biophys Acta 1659:221-231
    • (2004) Biochim Biophys Acta , vol.1659 , pp. 221-231
    • Taivassalo, T.1    Haller, R.G.2
  • 58
    • 28844479420 scopus 로고    scopus 로고
    • Exercise and training in mitochondrial myopathies
    • Taivassalo T, Haller RG (2005) Exercise and training in mitochondrial myopathies. Med Sci Sports Exerc 37:2094-2101
    • (2005) Med Sci Sports Exerc , vol.37 , pp. 2094-2101
    • Taivassalo, T.1    Haller, R.G.2
  • 61
    • 0030731246 scopus 로고    scopus 로고
    • A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies
    • Tarnopolsky MA, Roy BD, MacDonald JR (1997) A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies. Muscle Nerve 20:1502-1509
    • (1997) Muscle Nerve , vol.20 , pp. 1502-1509
    • Tarnopolsky, M.A.1    Roy, B.D.2    MacDonald, J.R.3
  • 62
    • 0031038812 scopus 로고    scopus 로고
    • Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids
    • Taylor RW, Chinnery PF, Turnbull DM, Lightowlers RN (1997) Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids. Nat Genet 15:212-215
    • (1997) Nat Genet , vol.15 , pp. 212-215
    • Taylor, R.W.1    Chinnery, P.F.2    Turnbull, D.M.3    Lightowlers, R.N.4
  • 64
    • 0027178828 scopus 로고
    • Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for pathogenesis of valproic acid-associated carnitine deficiency
    • Tein I, DiMauro S, Xie ZW, De Vivo DC (1993) Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for pathogenesis of valproic acid-associated carnitine deficiency. Pediatr Res 34:281-287
    • (1993) Pediatr Res , vol.34 , pp. 281-287
    • Tein, I.1    Dimauro, S.2    Xie, Z.W.3    De Vivo, D.C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.