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Volumn 63, Issue 4, 2008, Pages 473-481

Muscle 3243A→G mutation load and capacity of the mitochondrial energy-generating system

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENE TRANSFER; HUMAN; MALE; MELAS SYNDROME; MITOCHONDRIAL ENERGY TRANSFER; MUSCLE MITOCHONDRION; MUSCLE TISSUE; PRIORITY JOURNAL; RESPIRATORY CHAIN; RNA TRANSPORT; COMPARATIVE STUDY; ELECTRON TRANSPORT; ENERGY METABOLISM; GENETICS; INFANT; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; PHYSIOLOGY; PRESCHOOL CHILD; SKELETAL MUSCLE;

EID: 42949170382     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.21328     Document Type: Article
Times cited : (27)

References (45)
  • 1
    • 0021143782 scopus 로고
    • Mitochondrial myopathy encephalopathy, lactic acidosis, and stroke-like episodes: A distinctive clinical syndrome
    • Pavlakis SG, Phillips PC, DiMauro S, et al. Mitochondrial myopathy encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome. Ann Neurol 1984;16:481-488.
    • (1984) Ann Neurol , vol.16 , pp. 481-488
    • Pavlakis, S.G.1    Phillips, P.C.2    DiMauro, S.3
  • 2
    • 0023117240 scopus 로고
    • Two cases of NADH-coenzyme Q reductase deficiency: Relationship to MELAS syndrome
    • Kobayashi M, Morishita H, Sugiyama N, et al. Two cases of NADH-coenzyme Q reductase deficiency: relationship to MELAS syndrome. J Pediatr 1987;110:223-227.
    • (1987) J Pediatr , vol.110 , pp. 223-227
    • Kobayashi, M.1    Morishita, H.2    Sugiyama, N.3
  • 3
    • 0025666322 scopus 로고
    • Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990;348:651-653.
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 4
    • 0025534162 scopus 로고
    • Leu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)
    • Leu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun 1990;173:816-822.
    • (1990) Biochem Biophys Res Commun , vol.173 , pp. 816-822
    • Kobayashi, Y.1    Momoi, M.Y.2    Tominaga, K.3
  • 5
    • 0003545939 scopus 로고    scopus 로고
    • MITOMAP, Available at:, Accessed Jan 9, 2008
    • MITOMAP. A human mitochondrial genome database. Available at: http://www.miromap.org. Accessed Jan 9, 2008.
    • A human mitochondrial genome database
  • 6
    • 6044272949 scopus 로고    scopus 로고
    • Clinical presentations of mitochondrial cardiomyopathies
    • Lev D, Nissenkorn A, Leshinsky-Silver E, et al. Clinical presentations of mitochondrial cardiomyopathies. Pediatr Cardiol 2004;25:443-450.
    • (2004) Pediatr Cardiol , vol.25 , pp. 443-450
    • Lev, D.1    Nissenkorn, A.2    Leshinsky-Silver, E.3
  • 8
    • 7044253112 scopus 로고    scopus 로고
    • Paralytic ileus in MELAS with phenotypic features of MNGIE
    • Chang TM, Chi CS, Tsai CR, et al. Paralytic ileus in MELAS with phenotypic features of MNGIE. Pediatr Neurol 2004;31:374-377.
    • (2004) Pediatr Neurol , vol.31 , pp. 374-377
    • Chang, T.M.1    Chi, C.S.2    Tsai, C.R.3
  • 9
    • 4744349655 scopus 로고    scopus 로고
    • Polymorphism of epilepsy associated with the 3243A>G mutation of mitochondrial DNA (MELAS): Reasons for delayed diagnosis
    • Durand-Dubief F, Ryvlin P, Mauguiere F. Polymorphism of epilepsy associated with the 3243A>G mutation of mitochondrial DNA (MELAS): reasons for delayed diagnosis. Rev Neurol 2004;160:824-829.
    • (2004) Rev Neurol , vol.160 , pp. 824-829
    • Durand-Dubief, F.1    Ryvlin, P.2    Mauguiere, F.3
  • 10
    • 9144239818 scopus 로고    scopus 로고
    • Mitochondrial DNA abnormalities and autistic spectrum disorders
    • Pons RP, Andreu AL, Checcarelli N, et al. Mitochondrial DNA abnormalities and autistic spectrum disorders. J Pediatr 2004;144:81-85.
    • (2004) J Pediatr , vol.144 , pp. 81-85
    • Pons, R.P.1    Andreu, A.L.2    Checcarelli, N.3
  • 11
    • 11144272004 scopus 로고    scopus 로고
    • MELAS 3243A>G mitochondrial DNA mutation and age related maculopathy
    • Jones M, Mitchell P, Wang JJ, Sue C. MELAS 3243A>G mitochondrial DNA mutation and age related maculopathy. Am J Ophthalmol 2004;138:1051-1053.
    • (2004) Am J Ophthalmol , vol.138 , pp. 1051-1053
    • Jones, M.1    Mitchell, P.2    Wang, J.J.3    Sue, C.4
  • 12
    • 0034867550 scopus 로고    scopus 로고
    • Nail-patella syndrome associated with respiratory chain disorder
    • Finsterer J, Stollberger C, Wanschitz J, et al. Nail-patella syndrome associated with respiratory chain disorder. Eur Neurol 2001;46:92-95.
    • (2001) Eur Neurol , vol.46 , pp. 92-95
    • Finsterer, J.1    Stollberger, C.2    Wanschitz, J.3
  • 13
    • 14644414173 scopus 로고    scopus 로고
    • Mitochondrial DNA 3243A>G mutation and increased expression of LARS2 gene in the brains of patients with bipolar disorder and schizophrenia
    • Munakata K, Iwamoto K, Bundo M, Kato T. Mitochondrial DNA 3243A>G mutation and increased expression of LARS2 gene in the brains of patients with bipolar disorder and schizophrenia. Biol Psychiatr 2005;57:525-532.
    • (2005) Biol Psychiatr , vol.57 , pp. 525-532
    • Munakata, K.1    Iwamoto, K.2    Bundo, M.3    Kato, T.4
  • 14
    • 25144433792 scopus 로고    scopus 로고
    • Sensorineural hearing loss in patients with chronic progressive external ophthalmoplegia or Kearns-Sayre syndrome
    • Kornblum C, Broicher R, Walther E, et al. Sensorineural hearing loss in patients with chronic progressive external ophthalmoplegia or Kearns-Sayre syndrome. J Neurol 2005;252:1101-1107.
    • (2005) J Neurol , vol.252 , pp. 1101-1107
    • Kornblum, C.1    Broicher, R.2    Walther, E.3
  • 15
    • 27144503330 scopus 로고    scopus 로고
    • Renal cell carcinoma in a pediatric patient with an inherited mitochondrial mutation
    • Sangkhathat S, Kusafuka T, Yoneda A, et al. Renal cell carcinoma in a pediatric patient with an inherited mitochondrial mutation. Pediatr Surg Int 2005;21:745-748.
    • (2005) Pediatr Surg Int , vol.21 , pp. 745-748
    • Sangkhathat, S.1    Kusafuka, T.2    Yoneda, A.3
  • 16
    • 14044277478 scopus 로고    scopus 로고
    • Leu(UUK) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis
    • Leu(UUK) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis. Nephrol Dial Transplant 2005;20:336-341.
    • (2005) Nephrol Dial Transplant , vol.20 , pp. 336-341
    • Löwik, M.M.1    Hol, F.A.2    Steenbergen, E.J.3
  • 17
    • 0032486118 scopus 로고    scopus 로고
    • Yield of mtDNA mutation analysis in 2,000 patients
    • Liang MH, Wong LJ. Yield of mtDNA mutation analysis in 2,000 patients. Am J Med Genet 1998;77:395-400.
    • (1998) Am J Med Genet , vol.77 , pp. 395-400
    • Liang, M.H.1    Wong, L.J.2
  • 18
    • 0034705419 scopus 로고    scopus 로고
    • Leu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes
    • Leu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes. J Biol Chem 2000;275:19198-19209.
    • (2000) J Biol Chem , vol.275 , pp. 19198-19209
    • Chomyn, A.1    Enriquez, J.A.2    Micol, V.3
  • 19
    • 0037417764 scopus 로고    scopus 로고
    • Leu(UUR) decreases the efficiency of aminoacylation
    • Leu(UUR) decreases the efficiency of aminoacylation. Biochemistry 2003;42:958-964.
    • (2003) Biochemistry , vol.42 , pp. 958-964
    • Park, H.1    Davidson, E.2    King, M.P.3
  • 20
    • 0036794004 scopus 로고    scopus 로고
    • Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients harbouring the 3243A>G point mutation or large scale deletions of mitochondrial DNA
    • Vielhaber S, Varlamov DA, Kudina TA, et al. Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients harbouring the 3243A>G point mutation or large scale deletions of mitochondrial DNA. J Neuropathol Exp Neurol 2002;61:885-895.
    • (2002) J Neuropathol Exp Neurol , vol.61 , pp. 885-895
    • Vielhaber, S.1    Varlamov, D.A.2    Kudina, T.A.3
  • 21
    • 0028816203 scopus 로고
    • Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies
    • Bentlage HACM, de Coo R, ter Laak HJ, et al. Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies. Eur J Biochem 1995;227:909-915.
    • (1995) Eur J Biochem , vol.227 , pp. 909-915
    • Bentlage, H.A.C.M.1    de Coo, R.2    ter Laak, H.J.3
  • 22
    • 0037110990 scopus 로고    scopus 로고
    • A cystic fibrosis patient with two novel mutations in the mitochondrial DNA: Mild disease led to delayed diagnosis both disorders
    • Wong LC, Liang MH, Kwon H, et al. A cystic fibrosis patient with two novel mutations in the mitochondrial DNA: mild disease led to delayed diagnosis both disorders. Am J Med Genet 2002;113:59-64.
    • (2002) Am J Med Genet , vol.113 , pp. 59-64
    • Wong, L.C.1    Liang, M.H.2    Kwon, H.3
  • 23
    • 0035942301 scopus 로고    scopus 로고
    • No correlation between muscle 3243A>G mutation load and mitochondrial function in vivo
    • Chinnery PF, Taylor DJ, Manners D, et al. No correlation between muscle 3243A>G mutation load and mitochondrial function in vivo. Neurology 2001;56:1101-1104.
    • (2001) Neurology , vol.56 , pp. 1101-1104
    • Chinnery, P.F.1    Taylor, D.J.2    Manners, D.3
  • 25
    • 0029003333 scopus 로고
    • Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems
    • Attardi G, Yoneda M, Chomyn A. Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems. Biochim Biophys Acta 1995;1271:241-248.
    • (1995) Biochim Biophys Acta , vol.1271 , pp. 241-248
    • Attardi, G.1    Yoneda, M.2    Chomyn, A.3
  • 26
    • 33646347898 scopus 로고    scopus 로고
    • Determination of the mitochondrial energy generating capacity in human muscle mitochondria: Diagnostic procedure and application to human pathology
    • Janssen AJM, Trijbels JMF, Sengers RCA, et al. Determination of the mitochondrial energy generating capacity in human muscle mitochondria: diagnostic procedure and application to human pathology. Clin Chem 2006;52:860-871.
    • (2006) Clin Chem , vol.52 , pp. 860-871
    • Janssen, A.J.M.1    Trijbels, J.M.F.2    Sengers, R.C.A.3
  • 27
    • 0022454718 scopus 로고
    • Estimation of NADH oxidation in human skeletal muscle mitochondria
    • Fischer JC, Ruirenbeek W, Trijbels JMF, et al. Estimation of NADH oxidation in human skeletal muscle mitochondria. Clin Chim Acta 1986;155:263-273.
    • (1986) Clin Chim Acta , vol.155 , pp. 263-273
    • Fischer, J.C.1    Ruirenbeek, W.2    Trijbels, J.M.F.3
  • 28
    • 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
    • Bentlage HACM, Wendel U, Schägger H, et al. Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle. Neurology 1996;47:243-248.
    • (1996) Neurology , vol.47 , pp. 243-248
    • Bentlage, H.A.C.M.1    Wendel, U.2    Schägger, H.3
  • 29
    • 78651001645 scopus 로고
    • A microspectrophotometric method for the determination of cytochrome oxidase
    • Cooperstein S, Lazarow A. A microspectrophotometric method for the determination of cytochrome oxidase. J Biol Chem 1951;189:665-670.
    • (1951) J Biol Chem , vol.189 , pp. 665-670
    • Cooperstein, S.1    Lazarow, A.2
  • 30
    • 77957010982 scopus 로고    scopus 로고
    • Srere PA. Citrate synthase, EC 4.1.3.7. citrate oxaloacetate lyase (CoA-acetylating). Methods Enzymol 1969;13:3-11.
    • Srere PA. Citrate synthase, EC 4.1.3.7. citrate oxaloacetate lyase (CoA-acetylating). Methods Enzymol 1969;13:3-11.
  • 31
    • 0033953635 scopus 로고    scopus 로고
    • An economic method for the fluorescent labeling of PCR fragments
    • Schuelke M. An economic method for the fluorescent labeling of PCR fragments. Nat Biotechnol 2000;18:233-234.
    • (2000) Nat Biotechnol , vol.18 , pp. 233-234
    • Schuelke, M.1
  • 32
    • 34250854712 scopus 로고    scopus 로고
    • Analysis of mitochondrial DNA in discordant monozygotic twins with neurofibromatosis type 1. Twin Res
    • Detjen AK, Tinschert S, Kaufmann D, et al. Analysis of mitochondrial DNA in discordant monozygotic twins with neurofibromatosis type 1. Twin Res Hum Genet 2007;10:486-495.
    • (2007) Hum Genet , vol.10 , pp. 486-495
    • Detjen, A.K.1    Tinschert, S.2    Kaufmann, D.3
  • 33
    • 0035432034 scopus 로고    scopus 로고
    • The determination of complete human mitochondrial DNA sequences in single cells: Implication for the study of somatic mitochondrial DNA point mutations
    • Taylor RW, Taylor GA, Durham SE, Turnbull DM. The determination of complete human mitochondrial DNA sequences in single cells: implication for the study of somatic mitochondrial DNA point mutations. Nucleic Acids Res 2001;29:e74.
    • (2001) Nucleic Acids Res , vol.29
    • Taylor, R.W.1    Taylor, G.A.2    Durham, S.E.3    Turnbull, D.M.4
  • 35
    • 33644875533 scopus 로고    scopus 로고
    • Human Mitochondrial Genome Database, a resource for population genetics and medical sciences
    • Ingman M, Gyllensten U. mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences. Nucleic Acids Res 2006;34:749-751.
    • (2006) Nucleic Acids Res , vol.34 , pp. 749-751
    • Ingman, M.1    Gyllensten, U.2    mtDB3
  • 36
    • 0242609815 scopus 로고    scopus 로고
    • Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion
    • Crimi M, Del Bo R, Galbiati S, et al. Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion. Eur J Hum Genet 2003;11:896-898.
    • (2003) Eur J Hum Genet , vol.11 , pp. 896-898
    • Crimi, M.1    Del Bo, R.2    Galbiati, S.3
  • 37
    • 3442876759 scopus 로고    scopus 로고
    • No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the 3243A>G mutation
    • Deschauer M, Chinnery PF, Schaefer AM, et al. No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the 3243A>G mutation. J Neurol Neurosurg Psychiatr 2004;75:1200-1207.
    • (2004) J Neurol Neurosurg Psychiatr , vol.75 , pp. 1200-1207
    • Deschauer, M.1    Chinnery, P.F.2    Schaefer, A.M.3
  • 38
    • 0032569876 scopus 로고    scopus 로고
    • Detection of MELAS A3243G point mutation in muscle, blood and hair follicles
    • Sue CM, Quigley A, Katsabanis S, et al. Detection of MELAS A3243G point mutation in muscle, blood and hair follicles. J Neurol Sci 1998;161:36-39.
    • (1998) J Neurol Sci , vol.161 , pp. 36-39
    • Sue, C.M.1    Quigley, A.2    Katsabanis, S.3
  • 39
    • 0026708671 scopus 로고
    • Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A correlative study of the clinical features and mitochondrial DNA mutation
    • Goto Y, Horai S, Matsuoka T, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. Neurology 1992;42:545-550.
    • (1992) Neurology , vol.42 , pp. 545-550
    • Goto, Y.1    Horai, S.2    Matsuoka, T.3
  • 40
    • 0029032410 scopus 로고
    • Genotype to phenotype correlations in mirochondrial encephalomyopathies associated with the 3243A>G mutation of mitochondrial DNA
    • Mariotti C, Savarese N, Suomalainen A, et al. Genotype to phenotype correlations in mirochondrial encephalomyopathies associated with the 3243A>G mutation of mitochondrial DNA. J Neurol 1995;242:304-312.
    • (1995) J Neurol , vol.242 , pp. 304-312
    • Mariotti, C.1    Savarese, N.2    Suomalainen, A.3
  • 41
    • 0034772534 scopus 로고    scopus 로고
    • Mitochondrial genetic control of assembly and function of complex I in mammalian cells
    • Chomyn A. Mitochondrial genetic control of assembly and function of complex I in mammalian cells. J Bioenerg Biomembr 2001;33:251-257.
    • (2001) J Bioenerg Biomembr , vol.33 , pp. 251-257
    • Chomyn, A.1
  • 42
    • 0242321724 scopus 로고    scopus 로고
    • Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene
    • Ugalde C, Triepels RH, Coenen MJH, et al. Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. Ann Neurol 2003;54:665-669.
    • (2003) Ann Neurol , vol.54 , pp. 665-669
    • Ugalde, C.1    Triepels, R.H.2    Coenen, M.J.H.3
  • 43
    • 18844430007 scopus 로고    scopus 로고
    • Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease
    • Kirino Y, Goto Y, Campos Y, et al. Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease. Proc Natl Acad Sci USA 2005;102:7127-7132.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 7127-7132
    • Kirino, Y.1    Goto, Y.2    Campos, Y.3
  • 44
    • 33748986546 scopus 로고    scopus 로고
    • Super-complexes and subcomplexes of mitochondrial oxidative phosphorylation
    • Wittig I, Carrozzo R, Santorelli FM, Schägger H. Super-complexes and subcomplexes of mitochondrial oxidative phosphorylation. Biochim Biophys Acta 2006;1757:1066-1072.
    • (2006) Biochim Biophys Acta , vol.1757 , pp. 1066-1072
    • Wittig, I.1    Carrozzo, R.2    Santorelli, F.M.3    Schägger, H.4
  • 45
    • 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;41:1776-1804.
    • (1962) J Clin Invest , vol.41 , pp. 1776-1804
    • Luft, R.1    Ikkos, D.2    Palmieri, G.3


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