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Volumn 1659, Issue 2-3, 2004, Pages 121-128

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders

Author keywords

Assembly; Microarray; Mitochondrial diseases; mtDNA; Mutation; Respiratory chain

Indexed keywords

MITOCHONDRIAL DNA;

EID: 9644266773     PISSN: 00052728     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbabio.2004.08.006     Document Type: Conference Paper
Times cited : (88)

References (73)
  • 1
    • 0042266280 scopus 로고    scopus 로고
    • Minimum birth prevalence of mitochondrial respiratory chain disorders in children
    • D. Skladal, J. Halliday, and D.R. Thorburn Minimum birth prevalence of mitochondrial respiratory chain disorders in children Brain 126 2003 1905 1912
    • (2003) Brain , vol.126 , pp. 1905-1912
    • Skladal, D.1    Halliday, J.2    Thorburn, D.R.3
  • 2
    • 2942562564 scopus 로고    scopus 로고
    • Mitochondrial disorders: Prevalence, myths and advances
    • D.R. Thorburn Mitochondrial disorders: prevalence, myths and advances J. Inherit. Metab. Dis. 27 2004 349 362
    • (2004) J. Inherit. Metab. Dis. , vol.27 , pp. 349-362
    • Thorburn, D.R.1
  • 4
    • 0033646445 scopus 로고    scopus 로고
    • Practical problems in detecting abnormal mitochondrial functions and genomes
    • D.R. Thorburn Practical problems in detecting abnormal mitochondrial functions and genomes Hum. Reprod. 15 Suppl. 2 2000 57 67
    • (2000) Hum. Reprod. , vol.15 , Issue.2 , pp. 57-67
    • Thorburn, D.R.1
  • 5
    • 0035024320 scopus 로고    scopus 로고
    • Diagnosis of mitochondrial disorders: Clinical and biochemical approach
    • D.R. Thorburn, and J. Smeitink Diagnosis of mitochondrial disorders: clinical and biochemical approach J. Inherit. Metab. Dis. 24 2001 312 316
    • (2001) J. Inherit. Metab. Dis. , vol.24 , pp. 312-316
    • Thorburn, D.R.1    Smeitink, J.2
  • 7
    • 9644265636 scopus 로고    scopus 로고
    • Respiratory chain enzyme analysis in muscle and liver
    • D.R. Thorburn, C.W. Chow, and D.M. Kirby Respiratory chain enzyme analysis in muscle and liver Mitochondrion 4 2004 (in press)
    • (2004) Mitochondrion , vol.4
    • Thorburn, D.R.1    Chow, C.W.2    Kirby, D.M.3
  • 8
    • 0025126453 scopus 로고
    • Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies
    • X. Zheng, J.M. Shoffner, A.S. Voljavec, and D.C. Wallace Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies Biochim. Biophys. Acta 1019 1990 1 10
    • (1990) Biochim. Biophys. Acta , vol.1019 , pp. 1-10
    • Zheng, X.1    Shoffner, J.M.2    Voljavec, A.S.3    Wallace, D.C.4
  • 10
    • 0030051689 scopus 로고    scopus 로고
    • Familial cardiomyopathy with cataracts and lactic acidosis: A defect in complex I (NADH-Dehydrogenase) of the mitochondria respiratory chain
    • S. Pitkanen, F. Merante, D.R. Mcleod, D. Applegarth, T. Tong, and B.H. Robinson Familial cardiomyopathy with cataracts and lactic acidosis: a defect in complex I (NADH-Dehydrogenase) of the mitochondria respiratory chain Pediatr. Res. 39 1996 513 521
    • (1996) Pediatr. Res. , vol.39 , pp. 513-521
    • Pitkanen, S.1    Merante, F.2    McLeod, D.R.3    Applegarth, D.4    Tong, T.5    Robinson, B.H.6
  • 11
    • 0028291367 scopus 로고
    • An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria
    • M.A. Birch-Machin, H.L. Briggs, A.A. Saborido, L.A. Bindoff, and D.M. Turnbull An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria Biochem. Med. Metabol. Biol. 51 1994 35 42
    • (1994) Biochem. Med. Metabol. Biol. , vol.51 , pp. 35-42
    • Birch-Machin, M.A.1    Briggs, H.L.2    Saborido, A.A.3    Bindoff, L.A.4    Turnbull, D.M.5
  • 12
    • 0030015691 scopus 로고    scopus 로고
    • Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle
    • H.A. Bentlage, U. Wendel, H. Schagger, H.J. ter Laak, A.J. Janssen, and J.M. Trijbels Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle Neurology 47 1996 243 248
    • (1996) Neurology , vol.47 , pp. 243-248
    • Bentlage, H.A.1    Wendel, U.2    Schagger, H.3    Ter Laak, H.J.4    Janssen, A.J.5    Trijbels, J.M.6
  • 14
    • 0032893995 scopus 로고    scopus 로고
    • Respiratory chain complex I deficiency. An underdiagnosed energy generation disorder
    • D.M. Kirby, M. Crawford, M.A. Cleary, H.H.M. Dahl, X. Dennett, and D.R. Thorburn Respiratory chain complex I deficiency. An underdiagnosed energy generation disorder Neurology 52 1999 1255 1264
    • (1999) Neurology , vol.52 , pp. 1255-1264
    • Kirby, D.M.1    Crawford, M.2    Cleary, M.A.3    Dahl, H.H.M.4    Dennett, X.5    Thorburn, D.R.6
  • 16
    • 0026658519 scopus 로고
    • Guidelines for the diagnosis of rheumatic fever. Jones Criteria, 1992 update
    • Special Writing Group of the Committee on Rheumatic Fever, Endocarditis Kawasaki Disease of the Council on Cardiovascular Disease in the Young of the American Heart Association
    • Special Writing Group of the Committee on Rheumatic Fever, Endocarditis Kawasaki Disease of the Council on Cardiovascular Disease in the Young of the American Heart Association Guidelines for the diagnosis of rheumatic fever. Jones Criteria, 1992 update JAMA 268 1992 2069 2073
    • (1992) JAMA , vol.268 , pp. 2069-2073
  • 18
    • 0037069274 scopus 로고    scopus 로고
    • Mitochondrial disorders: A proposal for consensus diagnostic criteria in infants and children
    • N.I. Wolf, and J.A.M. Smeitink Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children Neurology 59 2002 1402 1405
    • (2002) Neurology , vol.59 , pp. 1402-1405
    • Wolf, N.I.1    Smeitink, J.A.M.2
  • 22
    • 0027412964 scopus 로고
    • Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts
    • B. Gerard, T. Bourgeron, D. Chretien, A. Rotig, A. Munnich, and P. Rustin Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts Eur. J. Pediatr. 152 1993 270
    • (1993) Eur. J. Pediatr. , vol.152 , pp. 270
    • Gerard, B.1    Bourgeron, T.2    Chretien, D.3    Rotig, A.4    Munnich, A.5    Rustin, P.6
  • 23
    • 0348149002 scopus 로고    scopus 로고
    • Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi
    • L. Niers, L. van den Heuvel, F. Trijbels, R. Sengers, and J. Smeitink Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi J. Inherit. Metab. Dis. 26 2003 647 658
    • (2003) J. Inherit. Metab. Dis. , vol.26 , pp. 647-658
    • Niers, L.1    Van Den Heuvel, L.2    Trijbels, F.3    Sengers, R.4    Smeitink, J.5
  • 24
    • 0034255870 scopus 로고    scopus 로고
    • 74th ENMC International Workshop: Mitochondrial Diseases 19-20 November 1999, Naarden, the Netherlands
    • J. Poulton, and D.M. Turnbull 74th ENMC International Workshop: Mitochondrial Diseases 19-20 November 1999, Naarden, the Netherlands Neuromuscul. Disord. 10 2000 460 462
    • (2000) Neuromuscul. Disord. , vol.10 , pp. 460-462
    • Poulton, J.1    Turnbull, D.M.2
  • 26
    • 0034949930 scopus 로고    scopus 로고
    • Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options
    • D.R. Thorburn, and H.H.M. Dahl Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options Am. J. Med. Genet. (Semin. Med. Genet.) 106 2001 102 114
    • (2001) Am. J. Med. Genet. (Semin. Med. Genet.) , vol.106 , pp. 102-114
    • Thorburn, D.R.1    Dahl, H.H.M.2
  • 27
    • 0036078149 scopus 로고    scopus 로고
    • Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: Clinical implications
    • J. Poulton, and D.R. Marchington Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: clinical implications Reproduction 123 2002 751 755
    • (2002) Reproduction , vol.123 , pp. 751-755
    • Poulton, J.1    Marchington, D.R.2
  • 29
    • 0037943964 scopus 로고    scopus 로고
    • Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome
    • P. Benit, J. Steffann, S. Lebon, D. Chretien, N. Kadhom, P. de Lonlay, A. Goldenberg, Y. Dumez, M. Dommergues, P. Rustin, A. Munnich, and A. Rotig Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome Hum. Genet. 112 2003 563 566
    • (2003) Hum. Genet. , vol.112 , pp. 563-566
    • Benit, P.1    Steffann, J.2    Lebon, S.3    Chretien, D.4    Kadhom, N.5    De Lonlay, P.6    Goldenberg, A.7    Dumez, Y.8    Dommergues, M.9    Rustin, P.10    Munnich, A.11    Rotig, A.12
  • 31
    • 0142154270 scopus 로고    scopus 로고
    • Mutations in COX10 result in a defect in mitochondrial heme a biosynthesis and account for multiple, early onset clinical phenotypes associated with isolated COX deficiency
    • H. Antonicka, S.C. Leary, G.H. Guercin, J.N. Agar, R. Horvath, N.G. Kennaway, C.O. Harding, M. Jaksch, and E.A. Shoubridge Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early onset clinical phenotypes associated with isolated COX deficiency Hum. Mol. Genet. 12 2003 2693 2702
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 2693-2702
    • Antonicka, H.1    Leary, S.C.2    Guercin, G.H.3    Agar, J.N.4    Horvath, R.5    Kennaway, N.G.6    Harding, C.O.7    Jaksch, M.8    Shoubridge, E.A.9
  • 36
    • 0035283150 scopus 로고    scopus 로고
    • A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome
    • V. Petruzzella, R. Vergari, I. Puzziferri, D. Boffoli, E. Lamantea, M. Zeviani, and S. Papa A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome Hum. Mol. Genet. 10 2001 529 535
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 529-535
    • Petruzzella, V.1    Vergari, R.2    Puzziferri, I.3    Boffoli, D.4    Lamantea, E.5    Zeviani, M.6    Papa, S.7
  • 37
    • 0030056515 scopus 로고    scopus 로고
    • Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase
    • S. Pitkanen, and B.H. Robinson Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase J. Clin. Invest. 98 1996 345 351
    • (1996) J. Clin. Invest. , vol.98 , pp. 345-351
    • Pitkanen, S.1    Robinson, B.H.2
  • 41
    • 1642382090 scopus 로고    scopus 로고
    • Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency
    • C. Ugalde, R.J. Janssen, L.P. van den Heuvel, J.A. Smeitink, and L.G. Nijtmans Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency Hum. Mol. Genet. 13 2004 659 667
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 659-667
    • Ugalde, C.1    Janssen, R.J.2    Van Den Heuvel, L.P.3    Smeitink, J.A.4    Nijtmans, L.G.5
  • 42
    • 0242353332 scopus 로고    scopus 로고
    • Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency
    • H. Antonicka, I. Ogilvie, T. Taivassalo, R.P. Anitori, R.G. Haller, J. Vissing, N.G. Kennaway, and E.A. Shoubridge Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency J. Biol. Chem. 278 2003 43081 43088
    • (2003) J. Biol. Chem. , vol.278 , pp. 43081-43088
    • Antonicka, H.1    Ogilvie, I.2    Taivassalo, T.3    Anitori, R.P.4    Haller, R.G.5    Vissing, J.6    Kennaway, N.G.7    Shoubridge, E.A.8
  • 44
    • 0033623822 scopus 로고    scopus 로고
    • Leigh disease caused by the mitochondrial DNA G14459A mutation in two unrelated families
    • D.M. Kirby, S.G. Kahler, M.L. Freckmann, D. Reddihough, and D.R. Thorburn Leigh disease caused by the mitochondrial DNA G14459A mutation in two unrelated families Ann. Neurol. 48 2000 102 104
    • (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
  • 51
    • 0034955881 scopus 로고    scopus 로고
    • Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene
    • R.W. Taylor, R. Singh-Kler, C.M. Hayes, P.E. Smith, and D.M. Turnbull Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene Ann. Neurol. 50 2001 104 107
    • (2001) Ann. Neurol. , vol.50 , pp. 104-107
    • Taylor, R.W.1    Singh-Kler, R.2    Hayes, C.M.3    Smith, P.E.4    Turnbull, D.M.5
  • 52
    • 0037461319 scopus 로고    scopus 로고
    • Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA
    • M. Deschauer, C. Bamberg, D. Claus, S. Zierz, D.M. Turnbull, and R.W. Taylor Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA Neurology 60 2003 1357 1359
    • (2003) Neurology , vol.60 , pp. 1357-1359
    • Deschauer, M.1    Bamberg, C.2    Claus, D.3    Zierz, S.4    Turnbull, D.M.5    Taylor, R.W.6
  • 54
    • 0037235874 scopus 로고    scopus 로고
    • Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?
    • D. Liolitsa, S. Rahman, S. Benton, L.J. Carr, and M.G. Hanna Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? Ann. Neurol. 53 2003 128 132
    • (2003) Ann. Neurol. , vol.53 , pp. 128-132
    • Liolitsa, D.1    Rahman, S.2    Benton, S.3    Carr, L.J.4    Hanna, M.G.5
  • 55
    • 0032707838 scopus 로고    scopus 로고
    • The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS
    • T. Pulkes, L. Eunson, V. Patterson, A. Siddiqui, N.W. Wood, I.P. Nelson, J.A. Morgan-Hughes, and M.G. Hanna The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS Ann. Neurol. 46 1999 916 919
    • (1999) Ann. Neurol. , vol.46 , pp. 916-919
    • Pulkes, T.1    Eunson, L.2    Patterson, V.3    Siddiqui, A.4    Wood, N.W.5    Nelson, I.P.6    Morgan-Hughes, J.A.7    Hanna, M.G.8
  • 57
    • 1642463791 scopus 로고    scopus 로고
    • Leigh syndrome caused by mitochondrial DNA G13513A mutation: Frequency and clinical features in Japan
    • A. Sudo, S. Honzawa, I. Nonaka, and Y. Goto Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan J. Hum. Genet. 49 2004 92 96
    • (2004) J. Hum. Genet. , vol.49 , pp. 92-96
    • Sudo, A.1    Honzawa, S.2    Nonaka, I.3    Goto, Y.4
  • 66
    • 2442706495 scopus 로고    scopus 로고
    • Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
    • V. Procaccio, and D.C. Wallace Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations Neurology 62 2004 1899 1901
    • (2004) Neurology , vol.62 , pp. 1899-1901
    • Procaccio, V.1    Wallace, D.C.2
  • 72
    • 0037029133 scopus 로고    scopus 로고
    • Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: The NDUFS4 gene
    • V. Petruzzella, and S. Papa Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene Gene 286 2002 149 154
    • (2002) Gene , vol.286 , pp. 149-154
    • Petruzzella, V.1    Papa, S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.