A possible association of responsiveness to adrenocorticotropic hormone with specific GRIN1 haplotypes in infantile spasms

Developmental Medicine and Child Neurology

Volumn 52, Issue 11, 2010, Pages 1028-1032

  Ding, Ying Xue ^a,b   Zhang, Ying ^a,b   He, Bing ^c   Yue, Wei Hua ^d,e   Zhang, Dai ^d,e   Zou, Li Ping ^a,b  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b CHINESE PLA GENERAL HOSPITAL   (China)

^c KAROLINSKA INSTITUTE   (Sweden)

^d PEKING UNIVERSITY SIXTH HOSPITAL   (China)

^e BEIJING HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN;

ARTICLE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE; GRIN1 GENE; HAPLOTYPE; HORMONE RESPONSE; HUMAN; INFANT; INFANTILE SPASM; MAJOR CLINICAL STUDY; MALE; MUTATOR GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM;

ADRENOCORTICOTROPIC HORMONE; CARRIER PROTEINS; CASE-CONTROL STUDIES; FEMALE; GENE FREQUENCY; GENOME-WIDE ASSOCIATION STUDY; HAPLOTYPES; HUMANS; INFANT; MALE; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, N-METHYL-D-ASPARTATE; SPASMS, INFANTILE; TREATMENT OUTCOME;

EID: 78049329725     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2010.03746.x     Document Type: Article

References (24)

1. Jaseja H. Drug-choice in management of West syndrome (infantile spasms): early ACTH treatment may offer a better prognostic outcome. Med Hypotheses 2008; 70: 197-8.
2. Rho JM. Basic science behind the catastrophic epilepsies. Epilepsia 2004; 45 (Suppl. 5): 5-11.
3. Velisek L, Jehle K, Asche S, Veliskova J. Model of infantile spasms induced by N-methyl-d-aspartic acid in prenatally impaired brain. Ann Neurol 2007; 61: 109-19.
4. Herlenius E, Lagercrantz H. Development of neurotransmitter systems during critical periods. Exp Neurol 2004; 190 (Suppl. 1): S8-21.
5. Jensen V, Rinholm JE, Johansen TJ, et al. N-methyl-d-aspartate receptor subunit dysfunction at hippocampal glutamatergic synapses in an animal model of attention-deficit/hyperactivity disorder. Neuroscience 2009; 158: 353-64.
6. Li C, Niu W, Jiang CH, Hu Y. Effects of enriched environment on gene expression and signal pathways in cortex of hippocampal CA1 specific NMDAR1 knockout mice. Brain Res Bull 2007; 71: 568-77.
7. Izawa R, Jaber M, Deroche-Gamonet V, et al. Gene expression regulation following behavioral sensitization to cocaine in transgenic mice lacking the glucocorticoid receptor in the brain. Neuroscience 2006; 137: 915-24.
8. Adams SM, De Rivero Vaccari JC, Corriveau RA. Pronounced cell death in the absence of NMDA receptors in the developing somatosensory thalamus. J Neurosci 2004; 24: 9441-50.
9. Cheli V, Adrover M, Blanco C, et al. Knocking-down the NMDAR1 subunit in a limited amount of neurons in the rat hippocampus impairs learning. J Neurochem 2006; 97 (Suppl. 1): 68-73.
10. Rujescu D, Soyka M, Dahmen N, et al. GRIN1 locus may modify the susceptibility to seizures during alcohol withdrawal. Am J Med Genet B 2005; 133: 85-7.
11. Yin W, Mendenhall JM, Bratton SB, et al. Novel localization of NMDA receptors within neuroendocrine gonadotropin-releasing hormone terminals. Exp Biol Med (Maywood) 2007; 232: 662-73.
12. Reynolds EH, Rodin E. The clinical concept of epilepsy. Epilepsia 2009; 50 (Suppl. 3): 2-7.
13. Lux AL, Edwards SW, Hancock E, et al. The United Kingdom Infantile Spasms Study comparing vigabatrin with prednisolone or tetracosactide at 14 days: a multicentre, randomised controlled trial. Lancet 2004; 364: 1773-8.
14. Baram TZ, Mitchell WG, Tournay A, Snead OC, Hanson RA, Horton EJ. High-dose corticotropin (ACTH) versus prednisone for infantile spasms: a prospective, randomized, blinded study. Pediatrics 1996; 97: 375-9.
15. Shi YY, He L. SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res 2005; 15: 97-8.
16. Halperin E, Eskin E. Haplotype reconstruction from genotype data using Imperfect Phylogeny. Bioinformatics 2004; 20: 1842-9.
17. DeLorenzo RJ, Sun DA, Deshpande LS. Erratum to 'Cellular mechanisms underlying acquired epilepsy: the calcium hypothesis of the induction and maintenance of epilepsy.' [Pharmacol Ther. 105(3) (2005) 229-266]. Pharmacol Ther 2006; 111: 288-325.
18. Zou LP, Zhang WH, Wang HM, Zen M, Chen K, Mix E. Maternal IgG suppresses NMDA-induced spasms in infant rats and inhibits NMDA-mediated neurotoxicity in hippocampal neurons. J Neuroimmunol 2006; 181: 106-11.
19. Masuho I, Mototani Y, Sahara Y, et al. Dynamic expression patterns of G protein-regulated inducer of neurite outgrowth 1 (GRIN1) and its colocalization with Galphao implicate significant roles of Galphao-GRIN1 signaling in nervous system. Dev Dyn 2008; 237: 2415-29.
20. Jensen PJ, Millan N, Mack KJ. Cortical NMDAR-1 gene expression is rapidly upregulated after seizure. Brain Res Mol Brain Res 1997; 44: 157-62.
21. Liu ZL, He B, Fang F, Tang CY, Zou LP. Genetic polymorphisms of MC2R gene associated with responsiveness to adrenocorticotropic hormone therapy in infantile spasms. Chin Med J (Engl) 2008; 121: 1627-32.
22. Zelena D, Mergl Z, Makara GB. Glutamate agonists activate the hypothalamic-pituitary-adrenal axis through hypothalamic paraventricular nucleus but not through vasopressinerg neurons. Brain Res 2005; 1031: 185-93.
23. Pechnick RN, Bresee CJ, Poland RE. The role of antagonism of NMDA receptor-mediated neurotransmission and inhibition of the dopamine reuptake in the neuroendocrine effects of phencyclidine. Life Sci 2006; 78: 2006-11.
24. Nardo L, Soong Y, Wu D, Young IR, Walker D, Szeto HH. Site and mechanism of action of dynorphin A-(1-13) and N-methyl-D-aspartate on ACTH release in fetal sheep. Am J Physiol Endocrinol Metab 2002; 282: E1301-7.