메뉴 건너뛰기




Volumn 50, Issue 4, 2007, Pages 653-659

Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice)

Author keywords

Glutathione; Krebs cycle enzymes; Mitochondrial dysfunction; Mitochondrial energy metabolism; Respiratory chain complexes; Succinic semialdehyde dehydrogenase deficiency

Indexed keywords

4 AMINOBUTYRIC ACID; GLUTATHIONE; SUCCINATE SEMIALDEHYDE DEHYDROGENASE;

EID: 33847323112     PISSN: 01970186     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neuint.2006.12.009     Document Type: Article
Times cited : (40)

References (50)
  • 1
    • 0346993682 scopus 로고    scopus 로고
    • Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene andfunctional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency
    • Akaboshi S., Hogema B.M., Novelletto A., Malaspina P., Salomons G.S., Maropoulos G.D., Jakobs C., Grompe M., and Gibson K.M. Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene andfunctional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Hum. Mutat. 22 (2003) 442-450
    • (2003) Hum. Mutat. , vol.22 , pp. 442-450
    • Akaboshi, S.1    Hogema, B.M.2    Novelletto, A.3    Malaspina, P.4    Salomons, G.S.5    Maropoulos, G.D.6    Jakobs, C.7    Grompe, M.8    Gibson, K.M.9
  • 2
    • 18344370792 scopus 로고    scopus 로고
    • Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T>A of the ALDH5A1 gene
    • Aoshima T., Kajita M., Sekido Y., Ishiguro Y., Tsuge I., Kimura M., Yamaguchi S., Watanabe K., Shimokata K., and Niwa T. Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T>A of the ALDH5A1 gene. Hum. Hered. 53 (2002) 42-44
    • (2002) Hum. Hered. , vol.53 , pp. 42-44
    • Aoshima, T.1    Kajita, M.2    Sekido, Y.3    Ishiguro, Y.4    Tsuge, I.5    Kimura, M.6    Yamaguchi, S.7    Watanabe, K.8    Shimokata, K.9    Niwa, T.10
  • 3
    • 0031002926 scopus 로고    scopus 로고
    • Glutamate neurotoxicity in rat cerebellar granule cells: a major role for xanthine oxidase in oxygen radical formation
    • Atlante A., Gagliardi S., Minervini G.M., Ciotti M.T., Marra E., and Calissano P. Glutamate neurotoxicity in rat cerebellar granule cells: a major role for xanthine oxidase in oxygen radical formation. J. Neurochem. 68 (1997) 2038-2045
    • (1997) J. Neurochem. , vol.68 , pp. 2038-2045
    • Atlante, A.1    Gagliardi, S.2    Minervini, G.M.3    Ciotti, M.T.4    Marra, E.5    Calissano, P.6
  • 4
    • 0026347825 scopus 로고
    • Aminooxyacetic acid results in cxcitotoxin lesions by a novel indirect mechanism
    • Beal M.F., Swartz K.J., Hyman B.T., Storey E., Finn S.F., and Koroshetz W. Aminooxyacetic acid results in cxcitotoxin lesions by a novel indirect mechanism. J. Neurochem. 57 (1991) 1068-1073
    • (1991) J. Neurochem. , vol.57 , pp. 1068-1073
    • Beal, M.F.1    Swartz, K.J.2    Hyman, B.T.3    Storey, E.4    Finn, S.F.5    Koroshetz, W.6
  • 6
    • 0024341492 scopus 로고
    • Nutritional and metabolic aspects of glutathione
    • Beutler E. Nutritional and metabolic aspects of glutathione. Annu. Rev. Nutr. 9 (1989) 287-302
    • (1989) Annu. Rev. Nutr. , vol.9 , pp. 287-302
    • Beutler, E.1
  • 7
    • 0001117141 scopus 로고
    • Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-oxidation
    • Brown G.K., et al. Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-oxidation. J. Inherit. Metab. Dis. 10 (1987) 367-375
    • (1987) J. Inherit. Metab. Dis. , vol.10 , pp. 367-375
    • Brown, G.K.1
  • 10
    • 0029008428 scopus 로고
    • Enzymes and transport systems involved in the formation and disposition of glutathione S-conjugates. Role in bioactivation and detoxication mechanisms of xenobiotics
    • Commandeur J.N., Stijntjes G.J., and Vermeulen N.P. Enzymes and transport systems involved in the formation and disposition of glutathione S-conjugates. Role in bioactivation and detoxication mechanisms of xenobiotics. Pharmacol. Rev. 47 (1995) 271-330
    • (1995) Pharmacol. Rev. , vol.47 , pp. 271-330
    • Commandeur, J.N.1    Stijntjes, G.J.2    Vermeulen, N.P.3
  • 11
    • 9644269233 scopus 로고    scopus 로고
    • Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy
    • Cortez M.A., Wu Y., Gibson K.M., and Snead O.C. Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy. Pharmacol. Biochem. Behav. 79 (2004) 547-553
    • (2004) Pharmacol. Biochem. Behav. , vol.79 , pp. 547-553
    • Cortez, M.A.1    Wu, Y.2    Gibson, K.M.3    Snead, O.C.4
  • 12
    • 0027178135 scopus 로고
    • Mechanisms of nitric oxide-mediated neurotoxicity in primary brain cultures
    • Dawson V.L., Dawson T.M., and Bartley D.A. Mechanisms of nitric oxide-mediated neurotoxicity in primary brain cultures. J. Neurosci. 13 (1993) 2651-2661
    • (1993) J. Neurosci. , vol.13 , pp. 2651-2661
    • Dawson, V.L.1    Dawson, T.M.2    Bartley, D.A.3
  • 15
    • 0023797159 scopus 로고
    • NMDA receptors activate the arachidonic acid cascade system in striatal neurons
    • Dumuis A., Sebben M., and Haynes L. NMDA receptors activate the arachidonic acid cascade system in striatal neurons. Nature 336 (1988) 68-70
    • (1988) Nature , vol.336 , pp. 68-70
    • Dumuis, A.1    Sebben, M.2    Haynes, L.3
  • 16
    • 0027933701 scopus 로고
    • +: implications for neurodegeneration
    • +: implications for neurodegeneration. J. Neurochem. 63 (1994) 584-591
    • (1994) J. Neurochem. , vol.63 , pp. 584-591
    • Dykens, J.A.1
  • 17
    • 0031887260 scopus 로고    scopus 로고
    • 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism
    • Gibson K.M., Hoffmann G.F., Hodson A.K., Bottiglieri T., and Jakobs C. 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. Neuropediatrics 29 (1998) 14-22
    • (1998) Neuropediatrics , vol.29 , pp. 14-22
    • Gibson, K.M.1    Hoffmann, G.F.2    Hodson, A.K.3    Bottiglieri, T.4    Jakobs, C.5
  • 19
    • 19444378504 scopus 로고    scopus 로고
    • Gamma-hydroxybutyric aciduria: a biochemist's education from a heritable disorder of GABA metabolism
    • Gibson K.M. Gamma-hydroxybutyric aciduria: a biochemist's education from a heritable disorder of GABA metabolism. J. Inherit. Metab. Dis. 28 (2005) 247-265
    • (2005) J. Inherit. Metab. Dis. , vol.28 , pp. 247-265
    • Gibson, K.M.1
  • 20
    • 27444432811 scopus 로고    scopus 로고
    • Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype
    • Gibson K.M., Jakobs C., Pearl P.L., and Snead O.C. Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. IUBMB Life 57 (2006) 639-644
    • (2006) IUBMB Life , vol.57 , pp. 639-644
    • Gibson, K.M.1    Jakobs, C.2    Pearl, P.L.3    Snead, O.C.4
  • 22
    • 3242727927 scopus 로고    scopus 로고
    • Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiency
    • Gupta M., Polinsky M., Senephansiri H., Snead O.C., Jansen E.E.W., Jakobs C., and Gibson K.M. Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiency. Neurobiol. Dis. 16 (2004) 556-562
    • (2004) Neurobiol. Dis. , vol.16 , pp. 556-562
    • Gupta, M.1    Polinsky, M.2    Senephansiri, H.3    Snead, O.C.4    Jansen, E.E.W.5    Jakobs, C.6    Gibson, K.M.7
  • 23
    • 0031659606 scopus 로고    scopus 로고
    • Quantification of the GABA shunt and the importance of the GABA shunt versus the 2-oxoglutarate dehydrogenase pathway in GABAergic neurons
    • Hassel B., Johannessen C.U., Sonnewald U., and Fonnum F. Quantification of the GABA shunt and the importance of the GABA shunt versus the 2-oxoglutarate dehydrogenase pathway in GABAergic neurons. J. Neurochem. 71 (1998) 1511-1518
    • (1998) J. Neurochem. , vol.71 , pp. 1511-1518
    • Hassel, B.1    Johannessen, C.U.2    Sonnewald, U.3    Fonnum, F.4
  • 24
    • 0015501042 scopus 로고
    • The binding of detergents to lipophilic and hydrophilic proteins
    • Helenius A., and Simons K. The binding of detergents to lipophilic and hydrophilic proteins. J. Biol. Chem. 247 (1972) 3656-3661
    • (1972) J. Biol. Chem. , vol.247 , pp. 3656-3661
    • Helenius, A.1    Simons, K.2
  • 25
    • 18244371105 scopus 로고    scopus 로고
    • Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses
    • Hogema B.M., Akaboshi S., Taylor M., et al. Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. Mol. Genet. Metab. 72 (2001) 218-222
    • (2001) Mol. Genet. Metab. , vol.72 , pp. 218-222
    • Hogema, B.M.1    Akaboshi, S.2    Taylor, M.3
  • 27
    • 0032506040 scopus 로고    scopus 로고
    • Selective inactivation of alpha-ketoglutarate dehydrogenase and pyruvate dehydrogenase: reaction of lipoic acid with 4-hydroxy-2-nonenal
    • Humphries K.M., and Szweda L.I. Selective inactivation of alpha-ketoglutarate dehydrogenase and pyruvate dehydrogenase: reaction of lipoic acid with 4-hydroxy-2-nonenal. Biochemistry 37 (1998) 15835-15841
    • (1998) Biochemistry , vol.37 , pp. 15835-15841
    • Humphries, K.M.1    Szweda, L.I.2
  • 31
    • 0036221686 scopus 로고    scopus 로고
    • The role of mitochondria in epileptogenesis
    • Kunz W.S. The role of mitochondria in epileptogenesis. Curr. Opin. Neurol. 15 (2002) 179-184
    • (2002) Curr. Opin. Neurol. , vol.15 , pp. 179-184
    • Kunz, W.S.1
  • 32
    • 71849104860 scopus 로고
    • Protein measurement with the Folin phenol reagent
    • Lowry O.H., Roseborough N.R., and Farr A.J. Protein measurement with the Folin phenol reagent. J. Biol. Chem. 193 (1951) 265-275
    • (1951) J. Biol. Chem. , vol.193 , pp. 265-275
    • Lowry, O.H.1    Roseborough, N.R.2    Farr, A.J.3
  • 33
    • 0000529794 scopus 로고
    • The activation of aconitase by ferrous ions and reducing agents
    • Morrison J.F. The activation of aconitase by ferrous ions and reducing agents. Biochem. J. 58 (1954) 685-692
    • (1954) Biochem. J. , vol.58 , pp. 685-692
    • Morrison, J.F.1
  • 34
  • 35
    • 0023895734 scopus 로고
    • Glutamate becomes neurotoxic via the N-methyl-d-aspartate receptor when intracellular energy levels are reduced.
    • Novelli A., Reilly J.A., Lysko P.G., and Henneberry R.C. Glutamate becomes neurotoxic via the N-methyl-d-aspartate receptor when intracellular energy levels are reduced. Brain Res. 451 (1988) 205-212
    • (1988) Brain Res. , vol.451 , pp. 205-212
    • Novelli, A.1    Reilly, J.A.2    Lysko, P.G.3    Henneberry, R.C.4
  • 36
    • 0344820721 scopus 로고    scopus 로고
    • Three classes of inhibitors share a common binding domain in mitochondrial complex I (NADH:ubiquinone oxidoreductase)
    • Okun J.G., Lummen P., and Brandt U. Three classes of inhibitors share a common binding domain in mitochondrial complex I (NADH:ubiquinone oxidoreductase). J. Biol. Chem. 274 (1999) 2625-2630
    • (1999) J. Biol. Chem. , vol.274 , pp. 2625-2630
    • Okun, J.G.1    Lummen, P.2    Brandt, U.3
  • 37
    • 0037177804 scopus 로고    scopus 로고
    • Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity
    • Okun J.G., Hörster F., Farkas L.M., Feyh P., Hinz A., Sauer S., Hoffmann G.F., Unsicker K., Mayatepek E., and Kölker S. Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. J. Biol. Chem. 277 (2002) 14674-14680
    • (2002) J. Biol. Chem. , vol.277 , pp. 14674-14680
    • Okun, J.G.1    Hörster, F.2    Farkas, L.M.3    Feyh, P.4    Hinz, A.5    Sauer, S.6    Hoffmann, G.F.7    Unsicker, K.8    Mayatepek, E.9    Kölker, S.10
  • 38
    • 7244238102 scopus 로고    scopus 로고
    • S-Acetylglutathione normalizes intracellular glutathione content in cultured fibroblasts from patients with glutathione synthetase deficiency
    • Okun J.G., Sauer S., Bahr S., Lenhartz H., and Mayatepek E.J. S-Acetylglutathione normalizes intracellular glutathione content in cultured fibroblasts from patients with glutathione synthetase deficiency. Inherit. Metab. Dis. 27 (2004) 783-786
    • (2004) Inherit. Metab. Dis. , vol.27 , pp. 783-786
    • Okun, J.G.1    Sauer, S.2    Bahr, S.3    Lenhartz, H.4    Mayatepek, E.J.5
  • 39
    • 33745635907 scopus 로고    scopus 로고
    • Acute symptomatic seizures and hippocampus damage: DWI and MRS findings
    • Parmar H., Lim S.H., Tan N.C., and Lim C.C. Acute symptomatic seizures and hippocampus damage: DWI and MRS findings. Neurology 66 (2006) 1732-1735
    • (2006) Neurology , vol.66 , pp. 1732-1735
    • Parmar, H.1    Lim, S.H.2    Tan, N.C.3    Lim, C.C.4
  • 40
    • 8544253949 scopus 로고    scopus 로고
    • Mitochondrial dysfunction and oxidative stress: cause and consequence of epileptic seizures
    • Patel M. Mitochondrial dysfunction and oxidative stress: cause and consequence of epileptic seizures. Free Radic. Biol. Med. 37 (2004) 1951-1962
    • (2004) Free Radic. Biol. Med. , vol.37 , pp. 1951-1962
    • Patel, M.1
  • 42
    • 0032537476 scopus 로고    scopus 로고
    • Thiamin-dependent enzymes as catalysts in chemoenzymatic syntheses
    • Schoerken U., and Sprenger G.A. Thiamin-dependent enzymes as catalysts in chemoenzymatic syntheses. Biochim. Biophys. Acta 1385 (1998) 229-243
    • (1998) Biochim. Biophys. Acta , vol.1385 , pp. 229-243
    • Schoerken, U.1    Sprenger, G.A.2
  • 44
    • 0014268885 scopus 로고
    • A study of the enzymatic reactions involved in the formation of 5-hydroxy-4-ketohexanoic acid and its isomer, 5-keto-4-hydroxyhexanoic acid
    • Shaw L.M.J., and Westerfeld W.W. A study of the enzymatic reactions involved in the formation of 5-hydroxy-4-ketohexanoic acid and its isomer, 5-keto-4-hydroxyhexanoic acid. Biochemistry 7 (1968) 1333-1338
    • (1968) Biochemistry , vol.7 , pp. 1333-1338
    • Shaw, L.M.J.1    Westerfeld, W.W.2
  • 47
    • 0029927343 scopus 로고    scopus 로고
    • Metabolic coupling between glia and neurons
    • Tsacopoulos M., and und Magistretti P.J. Metabolic coupling between glia and neurons. J. Neurosci. 16 (1996) 877-885
    • (1996) J. Neurosci. , vol.16 , pp. 877-885
    • Tsacopoulos, M.1    und Magistretti, P.J.2
  • 49
    • 0025290130 scopus 로고
    • Chemically induced hypoglycemia and anoxia: relationship to glutamate receptormediated toxicity in retina
    • Zeevalk G.D., and Nicklas W.J. Chemically induced hypoglycemia and anoxia: relationship to glutamate receptormediated toxicity in retina. J. Pharm. Exp. Ther. 253 (1990) 1285-1292
    • (1990) J. Pharm. Exp. Ther. , vol.253 , pp. 1285-1292
    • Zeevalk, G.D.1    Nicklas, W.J.2
  • 50
    • 0025768972 scopus 로고
    • Mechanisms underlying initiation of excitotoxicity associated with metabolic inhibition
    • Zeevalk G.D., and Nicklas W.J. Mechanisms underlying initiation of excitotoxicity associated with metabolic inhibition. J. Pharm. Exp. Ther. 257 (1991) 870-878
    • (1991) J. Pharm. Exp. Ther. , vol.257 , pp. 870-878
    • Zeevalk, G.D.1    Nicklas, W.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.