Infant mice with glutaric acidaemia type I have increased vulnerability to 3-nitropropionic acid toxicity

Journal of Inherited Metabolic Disease

Volumn 29, Issue 5, 2006, Pages 612-619

  Bjugstad, Kimberly B ^a   Crnic, L S ^a   Goodman, S I ^a   Freed, C R ^a  

^a UNIVERSITY OF COLORADO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 NITROPROPIONIC ACID; GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE;

ACIDURIA; AGE DISTRIBUTION; AMINOACIDURIA; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; CORPUS STRIATUM; CORRELATION ANALYSIS; DISEASE PREDISPOSITION; GLUTARIC ACIDEMIA; KNOCKOUT MOUSE; MALE; MOUSE; NERVE DEGENERATION; NEWBORN; NONHUMAN; SENSITIVITY ANALYSIS; TISSUE SPECIFICITY; WILD TYPE;

ANIMALS; ANIMALS, NEWBORN; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; DISEASE MODELS, ANIMAL; DOSE-RESPONSE RELATIONSHIP, DRUG; GLUTARATES; HUMANS; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MICE, TRANSGENIC; NEURODEGENERATIVE DISEASES; NITRO COMPOUNDS; PROPIONIC ACIDS;

EID: 33748707405     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0102-9     Document Type: Article

References (52)

1. 18 Fluoro-2-deoxyglucose (18FDG) PET scan of the brain in glutaric aciduria type 1: Clinical and MRI correlations. Brain Dev 20: 295-301.
2. Alexi T, Hughes PE, Knusel B, Tobin AJ (1998a) Metabolic compromise with systemic 3-nitropropionic acid produces striatal apoptosis in Sprague-Dawley rats but not in BALB/c ByJ mice. Exp Neurol 153: 74-93.
3. Alexi T, Hughes PE, Faull RLM, William CE (1998b) 3-Nitropropionic acid's lethal triplet: Cooperative pathways of neurodegeneration. NeuroReport 9, R57-R64.
4. Beal MF, Ferrante RJ, Henshaw R, et al (1995) 3-Nitropropionic acid neurotoxicity is attenuated in copper/zinc superoxide dismutase transgenic mice. J Neurochem 65: 919-922.
5. Bjugstad KB, Goodman SI, Freed CR (2000) Age of symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type 1. J Pediatr 137: 681-686.
6. Bjugstad KB, Zawada WM, Goodman SI, Freed CR (2001) IGF-1 and bFGF reduce glutaric and 3-hydroxyglutaric acid toxicity in striatal cultures. J Inherit Metab Dis 24: 631-647.
7. Bogdanov MB, Ferrante RJ, Kuemmerle S, Klivenyi P, Beal MF (1998a) Increased vulnerability to 3-nitropropionic acid in an animal model of Huntington's disease. J Neurochem 71: 2642-2644.
8. Bogdanov MB, Ramos LE, Xu Z, Beal MF (1998b) Elevated 'hydroxyl radical' generation in vivo in an animal model of amylotrophic lateral sclerosis. J Neurochem 71: 1321-1324.
9. Bogdanov MB, Ferrante RJ, Mueller G, Ramos LE, Martinou JC, Beal MF (1999) Oxidative stress is attenuated in mice overexpressing BCL-2. Neurosci Lett 262: 33-36.
10. Brouillet E, Jenkins BG, Hyman BT, et al (1993) Age-dependent vulnerability of the striatum to the mitochondrial toxin 3-nitroproprionic acid. J Neurochem 60: 356-359.
11. 2 -weighted, diffusion-weighted, and perfusion magnetic resonance imaging. Neuroscience 92: 1035-1041.
12. De Mello CF, Kolker S, Ahlemeyer B, et al (2001) Intrastriatal administration of 3-hydroxyglutaric acid induces convulsion and excitotoxic lesions in rats. Brain Res 916: 70-75.
13. Flott-Rahmel B, Falter C, Schluff P, et al (1997) Nerve cell lesions caused by 3-hydroxyglutaric acid. A possible mechanism for neurodegeneration in glutaric acidaemia I. J Inherit Metab Dis, 20: 387-390.
14. Fox WM (1965) Reflex-ontogeny and behavioral development of the mouse. Animal Behav 13: 234-241.
15. Funk, CB, Prasad AN, Frosk P, et al (2005) Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort. Brain 128: 711-722.
16. Goodman SI, Biery BJ (1996) Glutaric acidemia (type 1) Ment Retard Dev Disabil Res Rev 2: 155-159.
17. Goodman SI, Frerman FE (2001) Organic acidemias due to defects in lysine oxidation: 2-ketoadipic acidemia and glutaric acidemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2195-2204.
18. Goodman SI, Kohlhoff JG (1975) Glutaric aciduria: Inherited deficiency of glutaryl- CoA dehydrogenase activity. Biochem Med 13, 138-40.
19. Goodman SI, Markey SP, Moe PG, Miles BS, Teng CC (1975) Glutaric aciduria: A 'new' disorder of amino acid metabolism. Biochem Med 12: 12-21.
20. Gould DH, Gustine DL (1982) Basal ganglia degeneration, myelin alterations, and enzyme inhibition induced in mice by the plant toxin 3-nitropropanoic acid. Neuropathol Appl Neurobiol 8: 377-393.
21. Hamrick SEG, Ferriero DM (2003) The injury response in the term newborn brain: Can we neuroprotect? Curr Opin Neurol 16: 147-154.
22. Haworth JC, Booth FA, Chudley AE, et al (1991) Phenotypic variability in glutaric aciduria type 1: Report of fourteen cases in five Canadian Indian kindreds. J Pediatr 118: 52-58.
23. Herlenius E, Lagercrantz H (2004) Development of neurotransmitter systems during critical periods. Exp Neurol 190, s8-s21.
24. Hoffmann GF, Trefz FK, Barth PG, et al (1991) Macrocephaly: An important indication for organic acid analysis. J Inherit Metab Dis 14: 329-332.
25. Holme E, Kyllerman M, Lindstedt S (1989) Early prenatal diagnosis in two pregnancies at risk for glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 12: 280-282.
26. Johnson M, Perry RH, Piggott MA, et al (1996) Glutamate receptor binding in the human hippocampus and adjacent cortex during development and aging. Neurobiol Aging 17: 639-651.
27. Kim GW, Copin JC, Kawase M, et al (2000) Excitotoxicity is required for induction of oxidative stress and apoptosis in mouse striatum by the mitochondrial toxin, 3-nitropropionic acid. J Cereb Blood Flow Metab 20: 119-129.
28. Kimura S, Hara M, Nezu A, Osaka H, Yamazaki S, Saitoh K (1994) Two cases of glutaric aciduria type 1: Clinical and neuropathological findings. J Neurol Sci 123: 38-43.
29. Koeller DM, Woontner M, Crnic LS, et al (2002) Biochemical, pathologic, and behavioral analysis of a mouse model of glutaric acidemia type I. Hum Mol Genet 11: 347-357.
30. Kolker S, Ahlemeyer B, Krieglstein J, Hoffmann GF (1999) 3-Hydroxyglutaric and glutaric acids are neurotic through NMDA receptors in vitro. J Inherit Metab Dis, 22: 259-262.
31. Kolker S, Ahlemeyer B, Krieglstein J, Hoffman GF (2000) Maturation-dependent neurotoxicity of 3-hydroxyglutaric and glutaric acids in vitro: A new pathophysiologic approach to glutaryl-coA dehydrogenase deficiency. Pediatr Res 47: 495-503.
32. Kolker S, Ahlemeyer B, Krieglstein J, Hoffmann GF (2001) Contribution of reactive oxygen species to 3-hydroxyglutarate neurotoxicity in primary neuronal cultures from chick embryo telencephalons. Pediatr Res 50: 76-82.
33. + dependence of 3-hydroxyglutarate-induced excitoxicity in primary neuronal cultures from chick embryo telencephalons. Pediatr Res 52: 199-206.
34. Kolker S, Koeller DM, Okun JG, Hoffmann GF (2004) Pathomechanisms of neurodegeneration in glutaryl-coA dehydrogenase deficiency. Ann Neurol 55: 7-12.
35. Kyllerman M, Steen G (1977) Intermittently progressive dyskinetic syndrome in glutaric aciduria. Neuropediatrics 8: 397-404.
36. Kyllerman M, Skjeldal OH, Lundberg M, et al (1994) Dystonia and dyskinesia in glutaric aciduria type 1: Clinical heterogeneity and therapeutic considerations. Mov Disord 9: 22-30.
37. Latini A, Borba Rosa R, Scussiato K, Llesuy S, Bello-Klein A, Wajner M (2002) 3-Hydroxyglutaric acid induces oxidative stress and decreases the antioxidant defenses the antioxidant defenses in cerebral cortex of young rats. Brain Res 956: 367-373.
38. Latini A, Scussiato K, Leipnitz G, Dutra-Filho CS, Wajner M (2005) Promotion of oxidative stress by 3-hydroxyglutaric acid in rat striatum. J Inherit Metab Dis 28: 57-67.
39. Lau WK, Lui PW, Wong CK, Chan YS, Yung KK (2003) Differential expression of N-methyl-D-aspartate receptor subunit messenger ribonucleic acids and immunoreactivity in the rat neostriatum during postnatal development. Neurochem Int 43: 47-65.
40. Laurie DJ, Seeburg PH (1994) Regional and developmental heterogeneity in splicing of the rat brain NMDAR1 mRNA. J Neurosci 14: 3180-3194.
41. Lea PM IV, Faden AI (2001) Traumatic brain injury: Developmental differences in glutamate receptor response and the impact on treatment. Ment Retard Dev Dis Res Rev 7: 235-248.
42. Lund TM, Christensen E, Kristensen AS, Schousboe A, Lund AM (2004) On the neurotoxicity of glutaric, 3-hydroxyglutaric, and trans-glutaconic acids in glutaric acidemia type 1. J Neurosci Res 77: 143-147.
43. Palmer C, Menzies SL, Roberts RL, Pavlick G, Connor JR (1999) Changes in iron histochemistry after hypoxic-ischemic brain injury in the neonatal rat. J Neurosci Res 56: 60-71.
44. Peeters C, van Bel F (2001) Pharmacotherapeutical reduction of post-hypoxic-ischemic brain injury in the newborn. Biol Neonate 79: 274-280.
45. Sanchez-Cabente M, Massieu L (1999) Transient inhibition of glutamate uptake in vivo induces neurodegeneration when energy metabolism is impaired. J Neurochem 72: 129-138.
46. Stokke O, Goodman SI, Moe PG (1976) Inhibition of brain glutamate decarboxylase by glutarate, glutaconate, and β-hydroxyglutarate: explanation of the symptoms in the glutaric aciduria? Clin Chim Acta 66: 411-415.
47. Strauss KA, Morton DH (2003) Type I glutaric aciduria, part 2: A model of acute striatal necrosis. Am J Med Genet Part C (Semin Med Genet) 121C: 53-70.
48. Stutchfield P, Edwards MA, Gray RGF, Crawley P, Green A (1985) Glutaric aciduria type 1 misdiagnosed as Leigh's encephalopathy and cerebral palsy. Dev Med Child Neurol 27: 514-521.
49. Ullrich K, Flott-Rahmel B, Schluff. P, et al (1999) Glutaric aciduria type I: Pathomechanisms of neurodegeneration. J Inherit Metab Dis 22: 392-403.
50. Urbanska EM, Blaszczak P, Saran T, Kleinrok Z, Turski WA (1998) Mitochondrial toxin 3-nitropropionic acid evokes seizures in mice. Eur J Pharmacol 359: 55-58.
51. Virmani A, Gaetani F, Binienda Z (2005) Effects of metabolic modifiers such as carnitines, coenzyme Q10, and PUFAs against different forms of neurotoxic insults: Metabolic inhibitors MPTP, methamphetamine. Ann NY Acad Sci 1 053: 183-191.
52. Woeffle J, Kreft B, Emons D, Haverkamp F (1996) Subdural hemorrhage as an initial sign of glutaric aciduria type 1: A diagnostic pitfall. Pediatr Radiol 26: 779-781.