Haploinsufficiency of glutamine synthetase increases susceptibility to experimental febrile seizures

Genes, Brain and Behavior

Volumn 8, Issue 3, 2009, Pages 290-295

  Van Gassen, K L I ^a   Van Der Hel, W S ^a   Hakvoort, T B M ^b   Lamers, W H ^b   De Graan, P N E ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Epilepsy; Epileptogenesis; Fever; Glutamate ammonia ligase; Phenotype

Indexed keywords

AMINO ACID; CALBINDIN; EXCITATORY AMINO ACID TRANSPORTER 2; GLIAL FIBRILLARY ACIDIC PROTEIN; GLUTAMATE AMMONIA LIGASE; VESICULAR GLUTAMATE TRANSPORTER 1; VIMENTIN;

AIR; AMINO ACID BRAIN LEVEL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; DISEASE PREDISPOSITION; ENZYME ACTIVITY; ENZYME ANALYSIS; FEBRILE CONVULSION; GENE MUTATION; HAPLOIDY; HIPPOCAMPUS; HYPERTHERMIA; LATENT PERIOD; MOUSE; NISSL SUBSTANCE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN STRUCTURE;

ANIMALS; BIOLOGICAL MARKERS; BRAIN; BRAIN CHEMISTRY; DISEASE MODELS, ANIMAL; DOWN-REGULATION; EXCITATORY AMINO ACID TRANSPORTER 2; GENETIC PREDISPOSITION TO DISEASE; GLIAL FIBRILLARY ACIDIC PROTEIN; GLUTAMATE-AMMONIA LIGASE; GLUTAMIC ACID; HAPLOTYPES; MICE; MICE, KNOCKOUT; REACTION TIME; SEIZURES, FEBRILE; VESICULAR GLUTAMATE TRANSPORT PROTEIN 1; VIMENTIN;

ANIMALIA; MUS;

EID: 65249102285     PISSN: 16011848     EISSN: 1601183X     Source Type: Journal    
DOI: 10.1111/j.1601-183X.2008.00471.x     Document Type: Article

References (24)

1. Bjornsen, L.P., Eid, T., Holmseth, S., Danbolt, N.C., Spencer, D.D. de Lanerolle, N.C. (2007) Changes in glial glutamate transporters in human epileptogenic hippocampus: inadequate explanation for high extracellular glutamate during seizures. Neurobiol Dis 25, 319 330.
2. Choi, D.W., Maulucci-Gedde, M. Kriegstein, A.R. (1987) Glutamate neurotoxicity in cortical cell culture. J Neurosci 7, 357 368.
3. Dutuit, M., Didier-Bazes, M., Vergnes, M., Mutin, M., Conjard, A., Akaoka, H., Belin, M.F. Touret, M. (2000) Specific alteration in the expression of glial fibrillary acidic protein, glutamate dehydrogenase, and glutamine synthetase in rats with genetic absence epilepsy. Glia 32, 15 24.
4. Eid, T., Thomas, M.J., Spencer, D.D., Runden-Pran, E., Lai, J.C., Malthankar, G.V., Kim, J.H., Danbolt, N.C., Ottersen, O.P. de Lanerolle, N.C. (2004) Loss of glutamine synthetase in the human epileptogenic hippocampus: possible mechanism for raised extracellular glutamate in mesial temporal lobe epilepsy. Lancet 363, 28 37.
5. Eid, T., Hammer, J., Runden-Pran, E., Roberg, B., Thomas, M.J., Osen, K., Davanger, S., Laake, P., Torgner, I.A., Lee, T.S., Kim, J.H., Spencer, D.D., Ottersen, O.P. de Lanerolle, N.C. (2007) Increased expression of phosphate-activated glutaminase in hippocampal neurons in human mesial temporal lobe epilepsy. Acta Neuropathol 113, 137 152.
6. Eng, L.F. Ghirnikar, R.S. (1994) GFAP and astrogliosis. Brain Pathol 4, 229 237.
7. Ferraro, T.N., Golden, G.T., Smith, G.G., Longman, R.L., Snyder, R.L., DeMuth, D., Szpilzak, I., Mulholland, N., Eng, E., Lohoff, F.W., Buono, R.J. Berrettini, W.H. (2001) Quantitative genetic study of maximal electroshock seizure threshold in mice: evidence for a major seizure susceptibility locus on distal chromosome 1. Genomics 75, 35 42.
8. French, J.A., Williamson, P.D., Thadani, V.M., Darcey, T.M., Mattson, R.H., Spencer, S.S. Spencer, D.D. (1993) Characteristics of medial temporal lobe epilepsy: I. Results of history and physical examination. Ann Neurol 34, 774 780.
9. van Gassen, K.L., Hessel, E.V., Ramakers, G.M., Notenboom, R.G., Wolterink-Donselaar, I.G., Brakkee, J.H., Godschalk, T.C., Qiao, X., Spruijt, B.M., van Nieuwenhuizen, O. de Graan, P.N. (2008) Characterization of febrile seizures and febrile seizure susceptibility in mouse inbred strains. Genes Brain Behav. 7, 578 586.
10. Haberle, J., Gorg, B., Rutsch, F., Schmidt, E., Toutain, A., Benoist, J.F., Gelot, A., Suc, A.L., Hohne, W., Schliess, F., Haussinger, D. Koch, H.G. (2005) Congenital glutamine deficiency with glutamine synthetase mutations. N Engl J Med 353, 1926 1933.
11. He, Y., Hakvoort, T.B., Vermeulen, J.L., Lamers, W.H. van Roon, M.A. (2007) Glutamine synthetase is essential in early mouse embryogenesis. Dev Dyn 236, 1865 1875.
12. van der Hel, W.S., Notenboom, R.G., Bos, I.W., van Rijen, P.C., van Veelen, C.W. de Graan, P.N. (2005) Reduced glutamine synthetase in hippocampal areas with neuron loss in temporal lobe epilepsy. Neurology 64, 326 333.
13. Hessel, E.V.S., van Gassen, K.L.I., Wolterink-Donselaar, I.G., Stienen, P.J., Fernandes, C., Brakkee, J.H., Kas, M.J.H., de Graan, P.N.E. (2008) Phenotyping mouse chromosome substitution strains reveals multiple QTL's for febrile seizure susceptibility. Genes Brain Behav. Published online, DOI:10.1111/j.1601-183X.2008.00466.x.
14. Laming, P.R., Cosby, S.L. O'Neill, J.K. (1989) Seizures in the Mongolian gerbil are related to a deficiency in cerebral glutamine synthetase. Comp Biochem Physiol C 94, 399 404.
15. Letwin, N.E., Kafkafi, N., Benjamini, Y., Mayo, C., Frank, B.C., Luu, T., Lee, N.H. Elmer, G.I. (2006) Combined application of behavior genetics and microarray analysis to identify regional expression themes and gene-behavior associations. J Neurosci 26, 5277 5287.
16. Morimoto, T., Nagao, H., Yoshimatsu, M., Yoshida, K. Matsuda, H. (1993) Pathogenic role of glutamate in hyperthermia-induced seizures. Epilepsia 34, 447 452.
17. Morimoto, T., Kida, K., Nagao, H., Yoshida, K., Fukuda, M. Takashima, S. (1995) The pathogenic role of the NMDA receptor in hyperthermia-induced seizures in developing rats. Brain Res Dev Brain Res 84, 204 207.
18. Petroff, O.A., Errante, L.D., Rothman, D.L., Kim, J.H. Spencer, D.D. (2002) Glutamate-glutamine cycling in the epileptic human hippocampus. Epilepsia 43, 703 710.
19. Pierce, J.P., Punsoni, M., McCloskey, D.P. Scharfman, H.E. (2007) Mossy cell axon synaptic contacts on ectopic granule cells that are born following pilocarpine-induced seizures. Neurosci Lett 422, 136 140.
20. Proper, E.A., Hoogland, G., Kappen, S.M., Jansen, G.H., Rensen, M.G., Schrama, L.H., van Veelen, C.W., van Rijen, P.C., van Nieuwenhuizen, O., Gispen, W.H. de Graan, P.N. (2002) Distribution of glutamate transporters in the hippocampus of patients with pharmaco-resistant temporal lobe epilepsy. Brain 125, 32 43.
21. Rise, M.L., Frankel, W.N., Coffin, J.M. Seyfried, T.N. (1991) Genes for epilepsy mapped in the mouse. Science 253, 669 673.
22. Rowe, W.B. Meister, A. (1970) Identification of L-methionine-S- sulfoximine as the convulsant isomer of methionine sulfoximine. Proc Natl Acad Sci U S A 66, 500 506.
23. Tanaka, K., Watase, K., Manabe, T., Yamada, K., Watanabe, M., Takahashi, K., Iwama, H., Nishikawa, T., Ichihara, N., Kikuchi, T., Okuyama, S., Kawashima, N., Hori, S., Takimoto, M. Wada, K. (1997) Epilepsy and exacerbation of brain injury in mice lacking the glutamate transporter GLT-1. Science 276, 1699 1702.
24. Todorova, M.T., Mantis, J.G., Le, M., Kim, C.Y. Seyfried, T.N. (2006) Genetic and environmental interactions determine seizure susceptibility in epileptic EL mice. Genes Brain Behav 5, 518 527.