NMDA receptor subunit mutations in neurodevelopmental disorders

Current Opinion in Pharmacology

Volumn 20, Issue , 2015, Pages 73-82

  Burnashev, Nail ^a,b,c   Szepetowski, Pierre ^a,b,c,d  

^a INSERM   (France)

^b Turing Center for Living Systems CENTURI Aix Marseille University   (France)

^c AIX MARSEILLE UNIVERSITY   (France)

^d French Epilepsy Language and Development (EPILAND) Network   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID; LYSINE; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 1; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2A; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2B; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2C; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2D; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 3A; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 3B; SERINE; TYROSINE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; APRAXIA; ARTICLE; AUTISM; COPY NUMBER VARIATION; EPILEPSY; FOCAL EPILEPSY; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GRIN1 GENE; GRIN2A GENE; GRIN2B GENE; GRIN2C GENE; GRIN2D GENE; GRIN3A GENE; GRIN3B GENE; HUMAN; INTELLECTUAL IMPAIRMENT; LANDAU KLEFFNER SYNDROME; LENNOX GASTAUT SYNDROME; MISSENSE MUTATION; NEUROLOGIC DISEASE; NMDAR GENE; PATHOGENESIS; PROTEIN FUNCTION; PROTEIN TARGETING; ROLANDIC EPILEPSY; SCHIZOPHRENIA; WEST SYNDROME; BRAIN; BRAIN DISEASES; GENETICS; MENTAL DISORDERS; MOLECULARLY TARGETED THERAPY; MUTATION; NERVOUS SYSTEM DISEASES; PATHOPHYSIOLOGY; PHYSIOLOGY;

BRAIN; BRAIN DISEASES; HUMANS; MENTAL DISORDERS; MOLECULAR TARGETED THERAPY; MUTATION; NERVOUS SYSTEM DISEASES; RECEPTORS, N-METHYL-D-ASPARTATE;

EID: 84916623176     PISSN: 14714892     EISSN: 14714973     Source Type: Journal    
DOI: 10.1016/j.coph.2014.11.008     Document Type: Review

References (39)

1. Traynelis SF, Wollmuth LP, McBain CJ, Menniti FS, Vance KM, Ogden KK, Hansen KB, Yuan H, Myers SJ, Dingledine R: Glutamate receptor ion channels: structure, regulation, and function. Pharmacol Rev 2010, 62:405-496.
2. Paoletti P, Bellone C, Zhou Q: NMDA receptor subunit diversity: impact on receptor properties, synaptic plasticity and disease. Nat Rev Neurosci 2013, 14:383-400.
3. Paoletti P, Neyton J: NMDA receptor subunits: function and pharmacology. Curr Opin Pharmacol 2007, 7:39-47.
4. Hansen KB, Tajima N, Risgaard R, Perszyk RE, Jorgensen L, Vance KM, Ogden KK, Clausen RP, Furukawa H, Traynelis SF: Structural determinants of agonist efficacy at the glutamate binding site of N-methyl-D-aspartate receptors. Mol Pharmacol 2013, 84:114-127.
5. Gielen M, Siegler Retchless B, Mony L, Johnson JW, Paoletti P: Mechanism of differential control of NMDA receptor activity by NR2 subunits. Nature 2009, 459:703-707.
6. Hansen KB, Furukawa H, Traynelis SF: Control of assembly and function of glutamate receptors by the amino-terminal domain. Mol Pharmacol 2010, 78:535-549.
7. Yuan H, Hansen KB, Vance KM, Ogden KK, Traynelis SF: Control of NMDA receptor function by the NR2 subunit amino-terminal domain. J Neurosci 2009, 29:12045-12058.
8. Liu DD, Yang Q, Li ST: Activation of extrasynaptic NMDA receptors induces LTD in rat hippocampal CA1 neurons. Brain Res Bull 2013, 93:10-16.
9. Kaindl AM, Degos V, Peineau S, Gouadon E, Chhor V, Loron G, Le Charpentier T, Josserand J, Ali C, Vivien D et al.: Activation of microglial N-methyl-D-aspartate receptors triggers inflammation and neuronal cell death in the developing and mature brain. Ann Neurol 2012, 72:536-549.
10. Henson MA, Roberts AC, Perez-Otano I, Philpot BD: Influence of the NR3A subunit on NMDA receptor functions. Prog Neurobiol 2010, 91:23-37.
11. Burzomato V, Frugier G, Perez-Otano I, Kittler JT, Attwell D: The receptor subunits generating NMDA receptor mediated currents in oligodendrocytes. J Physiol 2010, 588:3403-3414.
12. Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, Spiegelman D, Dobrzeniecka S, Piton A et al.: Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet 2011, 88:306-316.
13. Epi4K Consortium, Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y et al.: De novo mutations in epileptic encephalopathies. Nature 2013, 501:217-221.
14. Rudolf G, Valenti MP, Hirsch E, Szepetowski P: From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: insights into possible genetic factors. Epilepsia 2009, 50(Suppl 7):25-28.
15. Lesca G, Rudolf G, Labalme A, Hirsch E, Arzimanoglou A, Genton P, Motte J, de Saint Martin A, Valenti MP, Boulay C et al.: Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism. Epilepsia 2012, 53:1526-1538.
16. Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E et al.: GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet 2013, 45:1073-1076.
17. Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K et al.: Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet 2013, 45:1067-1072.
18. Lesca G, Rudolf G, Bruneau N, Lozovaya N, Labalme A, Boutry-Kryza N, Salmi M, Tsintsadze T, Addis L, Motte J et al.: GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet 2013, 45:1061-1066.
19. DeVries SP, Patel AD: Two patients with a GRIN2A mutation and childhood-onset epilepsy. Pediatr Neurol 2013, 49:482-485.
20. Dimassi S, Labalme A, Lesca G, Rudolf G, Bruneau N, Hirsch E, Arzimanoglou A, Motte J, de Saint Martin A, Boutry-Kryza N et al.: A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2. Epilepsia 2014, 55:370-378.
21. Reutlinger C, Helbig I, Gawelczyk B, Subero JI, Tonnies H, Muhle H, Finsterwalder K, Vermeer S, Pfundt R, Sperner J et al.: Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region. Epilepsia 2010, 51:1870-1873.
22. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C et al.: Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012, 367:1921-1929.
23. Yuan H, Hansen KB, Zhang J, Pierson TM, Markello TC, Fajardo KV, Holloman CM, Golas G, Adams DR, Boerkoel CF et al.: Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. Nat Commun 2014, 5:3251.
24. Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortum F, Fritsch A, Pientka FK et al.: Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 2010, 42:1021-1026.
25. Venkateswaran S, Myers KA, Smith AC, Beaulieu CL, Schwartzentruber JA, Majewski J, Bulman D, Boycott KM, Dyment DA: Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation. Epilepsia 2014, 55:e75-e79.
26. Yamada-Fowler N, Fredrikson M, Soderkvist P: Caffeine interaction with glutamate receptor gene GRIN2A: Parkinson's disease in Swedish population. PLOS ONE 2014, 9:e99294.
27. Hamza TH, Chen H, Hill-Burns EM, Rhodes SL, Montimurro J, Kay DM, Tenesa A, Kusel VI, Sheehan P, Eaaswarkhanth M et al.: Genome-wide gene-environment study identifies glutamate receptor gene GRIN2A as a Parkinson's disease modifier gene via interaction with coffee. PLoS Genet 2011, 7:e1002237.
28. Sadikot AF, Burhan AM, Belanger MC, Sasseville R: NMDA receptor antagonists influence early development of GABAergic interneurons in the mammalian striatum. Brain Res Dev Brain Res 1998, 105:35-42.
29. Kinney JW, Davis CN, Tabarean I, Conti B, Bartfai T, Behrens MM: A specific role for NR2A-containing NMDA receptors in the maintenance of parvalbumin and GAD67 immunoreactivity in cultured interneurons. J Neurosci 2006, 26:1604-1615.
30. Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, Markello T, Golas G, Simeonov DR, Holloman C, Tankovic A et al.: GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. Ann Clin Transl Neurol 2014, 1:190-198.
31. O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K et al.: Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 2012, 338:1619-1622.
32. O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C et al.: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 2011, 43:585-589.
33. Kenny EM, Cormican P, Furlong S, Heron E, Kenny G, Fahey C, Kelleher E, Ennis S, Tropea D, Anney R et al.: Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders. Mol Psychiatry 2014, 19:872-879.
34. Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM et al. : Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell 2012, 149:525-537.
35. Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, Hortnagel K et al.: GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. Ann Neurol 2014, 75:147-154.
36. Myers RA, Casals F, Gauthier J, Hamdan FF, Keebler J, Boyko AR, Bustamante CD, Piton AM, Spiegelman D, Henrion E et al.: A population genetic approach to mapping neurological disorder genes using deep resequencing. PLoS Genet 2011, 7:e1001318.
37. Tarabeux J, Kebir O, Gauthier J, Hamdan FF, Xiong L, Piton A, Spiegelman D, Henrion E, Millet B, Fathalli F et al.: Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. Transl Psychiatry 2011, 1:e55.
38. Conroy J, McGettigan PA, McCreary D, Shah N, Collins K, Parry- Fielder B, Moran M, Hanrahan D, Deonna TW, Korff CM et al.: Towards the identification of a genetic basis for Landau-Kleffner syndrome. Epilepsia 2014, 55:858-865.
39. Freunscht I, Popp B, Blank R, Endele S, Moog U, Petri H, Prott EC, Reis A, Rubo J, Zabel B et al.: Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene. Behav Brain Funct 2013, 9:20.