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Volumn 19, Issue 4, 1997, Pages 279-286

Protean manifestations of mitochondrial diseases: A minireview

Author keywords

Chronic progressive external ophthalmoplegia (CPEO); Deletions; Diabetes mellitus; Kearns Sayre syndrome; Mitochondria; Mitochondrial encephalopathy, lactic acidosis, and strokes (MELAS) syndrome; Mitochondrlal DNA; Mutations; Pearson syndrome

Indexed keywords

ANTIOXIDANT; BIOTIN; CARNITINE; DICHLOROACETIC ACID; MITOCHONDRIAL DNA; RIBOFLAVIN; THIAMINE; TRANSFER RNA; UBIQUINONE;

EID: 0030700599     PISSN: 10774114     EISSN: None     Source Type: Journal    
DOI: 10.1097/00043426-199707000-00003     Document Type: Short Survey
Times cited : (24)

References (31)
  • 1
    • 0028860819 scopus 로고
    • Mitochondrial medicine
    • Luft R, Landau BR. Mitochondrial medicine. J Intern Med 1995;238:405-21.
    • (1995) J Intern Med , vol.238 , pp. 405-421
    • Luft, R.1    Landau, B.R.2
  • 3
    • 0002629236 scopus 로고    scopus 로고
    • Mitochondrial encephalopathies
    • Rosenberg RN, Prusiner SB, DiMauro S, et al, eds. Boston: Butterworth-Heinemann
    • DiMauro S, Bonilla E. Mitochondrial encephalopathies. In: Rosenberg RN, Prusiner SB, DiMauro S, et al, eds. The Molecular and Genetic Basis of Neurological Disease, 2nd ed. Boston: Butterworth-Heinemann, 1997:201-35.
    • (1997) The Molecular and Genetic Basis of Neurological Disease, 2nd Ed. , pp. 201-235
    • DiMauro, S.1    Bonilla, E.2
  • 4
    • 0002459206 scopus 로고    scopus 로고
    • The mitochondrial genome
    • Rosenberg RN, Prusiner SB, DiMauro S, et al, eds. Boston: Butterworth-Heinemann
    • Schon EA. The mitochondrial genome. In: Rosenberg RN, Prusiner SB, DiMauro S, et al, eds. The Molecular and Genetic Basis of Neurological Disease, 2nd ed. Boston: Butterworth-Heinemann, 1997: 189-200.
    • (1997) The Molecular and Genetic Basis of Neurological Disease, 2nd Ed. , pp. 189-200
    • Schon, E.A.1
  • 5
    • 0029774146 scopus 로고    scopus 로고
    • The protein import system of mitochondria
    • Schatz G. The protein import system of mitochondria. J Biol Chem 1996;271:31763-6.
    • (1996) J Biol Chem , vol.271 , pp. 31763-31766
    • Schatz, G.1
  • 6
    • 0029816795 scopus 로고    scopus 로고
    • Random genetic drift in the female germline explains the rapid segregation of mammmalian mitochondrial DNA
    • Jenuth JP, Peterson AC, Fu K, et al. Random genetic drift in the female germline explains the rapid segregation of mammmalian mitochondrial DNA. Nat Genet 1996;14:146-50.
    • (1996) Nat Genet , vol.14 , pp. 146-150
    • Jenuth, J.P.1    Peterson, A.C.2    Fu, K.3
  • 7
    • 78651126508 scopus 로고
    • A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: A correlated clinical, biochemical, and morphological study
    • Luft R, Ikkos D, Palmieri G, et al. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: A correlated clinical, biochemical, and morphological study. J Clin Invest 1962;41:1776-804.
    • (1962) J Clin Invest , vol.41 , pp. 1776-1804
    • Luft, R.1    Ikkos, D.2    Palmieri, G.3
  • 8
    • 0024242545 scopus 로고
    • Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988;242:1427-30.
    • (1988) Science , vol.242 , pp. 1427-1430
    • Wallace, D.C.1    Singh, G.2    Lott, M.T.3
  • 9
    • 0025666322 scopus 로고
    • A mutation in the tRNA Leu (UUR) gene associated with the MELAS subgroup of mitochondrial encephalopathies
    • Goto Y, Nonaka I, Horai S. A mutation in the tRNA Leu (UUR) gene associated with the MELAS subgroup of mitochondrial encephalopathies. Nature 1990;384:651-3.
    • (1990) Nature , vol.384 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 10
    • 0028365102 scopus 로고
    • Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene
    • van den Ouweland JM, Lemkes HH, Trembath RC, et al. Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene. Diabetes 1994;43:746-51.
    • (1994) Diabetes , vol.43 , pp. 746-751
    • Van Den Ouweland, J.M.1    Lemkes, H.H.2    Trembath, R.C.3
  • 12
    • 0023883150 scopus 로고
    • Deletions of mitochondrial DNA in patients with mitochondrial myopathies
    • Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988;331:717-9.
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, I.J.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 13
    • 0023813744 scopus 로고
    • Deletions of mitochondrial DNA in Kearns-Sayre syndrome
    • Zeviani M, Moraes CT, DiMauro S, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988;38:1339-46.
    • (1988) Neurology , vol.38 , pp. 1339-1346
    • Zeviani, M.1    Moraes, C.T.2    DiMauro, S.3
  • 14
    • 0024328462 scopus 로고
    • Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
    • Moraes CT, DiMauro S, Zeviani M, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989;320:1293-9.
    • (1989) N Engl J Med , vol.320 , pp. 1293-1299
    • Moraes, C.T.1    DiMauro, S.2    Zeviani, M.3
  • 15
    • 0026849690 scopus 로고
    • Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion
    • Ballinger SW, Shoffner JM, Hedaya EV, et al. Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nature 1992;Genetics 1:11-5.
    • (1992) Nature , vol.GENETICS 1 , pp. 11-15
    • Ballinger, S.W.1    Shoffner, J.M.2    Hedaya, E.V.3
  • 16
    • 0025044656 scopus 로고
    • Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA
    • Mita S, Rizzuto R, Moraes CT, et al. Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucleic Acids Res 1990;18:561-7.
    • (1990) Nucleic Acids Res , vol.18 , pp. 561-567
    • Mita, S.1    Rizzuto, R.2    Moraes, C.T.3
  • 17
    • 0018712317 scopus 로고
    • A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction
    • Pearson HA, Lobel JS, Kocoshis SA, et al. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 1979;95:976-84.
    • (1979) J Pediatr , vol.95 , pp. 976-984
    • Pearson, H.A.1    Lobel, J.S.2    Kocoshis, S.A.3
  • 18
    • 0025133424 scopus 로고
    • Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy
    • Rotig A, Cormier V, Blanche S, et al. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest 1990;86:1601-8.
    • (1990) J Clin Invest , vol.86 , pp. 1601-1608
    • Rotig, A.1    Cormier, V.2    Blanche, S.3
  • 19
    • 0029147133 scopus 로고
    • Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome
    • Rotig A, Bourgeron T, Chretien D, et al. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet 1995;4:1327-30.
    • (1995) Hum Mol Genet , vol.4 , pp. 1327-1330
    • Rotig, A.1    Bourgeron, T.2    Chretien, D.3
  • 20
    • 0027337386 scopus 로고
    • Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome)
    • Rotig A, Cormier V, Chatelain P, et al. Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome). J Inherit Metab Dis 1993;16:527-30.
    • (1993) J Inherit Metab Dis , vol.16 , pp. 527-530
    • Rotig, A.1    Cormier, V.2    Chatelain, P.3
  • 21
    • 0028156783 scopus 로고
    • Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy
    • Cormier-Daire V, Bonnefont JP, Rustin P, et al. Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy. J Pediatr 1994;124:63-70.
    • (1994) J Pediatr , vol.124 , pp. 63-70
    • Cormier-Daire, V.1    Bonnefont, J.P.2    Rustin, P.3
  • 22
    • 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, et al. Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome. J Pediatr 1993; 123:598-602.
    • (1993) J Pediatr , vol.123 , pp. 598-602
    • Bernes, S.M.1    Bacino, C.2    Prezant, T.R.3
  • 23
    • 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, et al. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989;339:309-10.
    • (1989) Nature , vol.339 , pp. 309-310
    • Zeviani, M.1    Servidei, S.2    Gellera, C.3
  • 24
    • 0026015896 scopus 로고
    • mtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases
    • Moraes CT, Shanske S, Tritschler HJ, et al. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 1991;48:492-501.
    • (1991) Am J Hum Genet , vol.48 , pp. 492-501
    • Moraes, C.T.1    Shanske, S.2    Tritschler, H.J.3
  • 25
    • 0029869935 scopus 로고    scopus 로고
    • Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease
    • Bakker HD, Scholte HR, Dingemans KP, et al. Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease. J Pediatr 1996;128:683-7.
    • (1996) J Pediatr , vol.128 , pp. 683-687
    • Bakker, H.D.1    Scholte, H.R.2    Dingemans, K.P.3
  • 26
    • 0023196089 scopus 로고
    • Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy
    • Hoppel CL, Kerr DS, Dahms B, et al. Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy. J Clin Invest 1987;80:71-7.
    • (1987) J Clin Invest , vol.80 , pp. 71-77
    • Hoppel, C.L.1    Kerr, D.S.2    Dahms, B.3
  • 27
    • 0029035721 scopus 로고
    • Treatment of lactic acidosis: A review
    • Kerr DS. Treatment of lactic acidosis: A review. Int Pediatr 1995; 10:75-81.
    • (1995) Int Pediatr , vol.10 , pp. 75-81
    • Kerr, D.S.1
  • 28
    • 0031456509 scopus 로고    scopus 로고
    • Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets: Studies in patients with identical mutations
    • in press
    • Wexler ID, Hemalatha SG, McConnell J, et al. Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets: Studies in patients with identical mutations. Neurology 1997;in press.
    • (1997) Neurology
    • Wexler, I.D.1    Hemalatha, S.G.2    McConnell, J.3
  • 29
    • 0026448257 scopus 로고
    • A controlled clinical trial of dichloroacetate for treatment of lactic acidosis in adults
    • The Dichloroacetate-Lactic Acidosis Study Group
    • Stacpoole PW, Wright EC, Baumgartner TG, et al. A controlled clinical trial of dichloroacetate for treatment of lactic acidosis in adults. The Dichloroacetate-Lactic Acidosis Study Group. N Engl J Med 1992; 27:1564-9.
    • (1992) N Engl J Med , vol.27 , pp. 1564-1569
    • Stacpoole, P.W.1    Wright, E.C.2    Baumgartner, T.G.3
  • 30
    • 0030056515 scopus 로고    scopus 로고
    • Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase
    • Pitkanen S, Robinson BH. Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase. J Clin Invest 1996;98:345-51.
    • (1996) J Clin Invest , vol.98 , pp. 345-351
    • Pitkanen, S.1    Robinson, B.H.2
  • 31
    • 0029045299 scopus 로고
    • 1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging
    • Wallace DC. 1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging. Am J Hum Genet 1995;57:201-23.
    • (1995) Am J Hum Genet , vol.57 , pp. 201-223
    • Wallace, D.C.1


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