Mutation I810N in the α3 isoform of Na+,K +-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS

Proceedings of the National Academy of Sciences of the United States of America

Volumn 106, Issue 33, 2009, Pages 14085-14090

  Clapcote, Steven J ^a,b   Duffy, Steven ^a   Xie, Gang ^a   Kirshenbaum, Greer ^a,c   Bechard, Allison R ^a   Schack, Vivien Rodacker ^d   Petersen, Janne ^d   Sinai, Laleh ^a,c   Saab, Bechara J ^a,c   Lerch, Jason P ^e   Minassian, Berge A ^c,e   Ackerley, Cameron A ^e   Sled, John G ^c,e   Cortez, Miguel A ^c,e   Henderson, Jeffrey T ^c   Vilsen, Bente ^d   Roder, John C ^a,c  

^a MOUNT SINAI HOSPITAL   (Canada)

^b UNIVERSITY OF LEEDS   (United Kingdom)

^c UNIVERSITY OF TORONTO   (Canada)

^d AARHUS UNIVERSITY   (Denmark)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Alpha3 Na+,K+ ATPase; BAC rescue; Epilepsy; Forward genetic screen; Mouse

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); SODIUM ION, POTASSIUM ION ATPASE ALPHA 3; UNCLASSIFIED DRUG; ATP1A3 PROTEIN, MOUSE;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CENTRAL NERVOUS SYSTEM; CONTROLLED STUDY; ENZYME ACTIVITY; EPILEPSY; FEMALE; GENE; GENE MUTATION; ISOLATION PROCEDURE; MALE; MOUSE; MUTAGENESIS; MYSHKIN GENE; NERVE CELL DEGENERATION; NERVE EXCITABILITY; NONHUMAN; PRIORITY JOURNAL; TRANSGENICS; WILD TYPE; ANIMAL; C57BL MOUSE; CELL STRAIN COS1; CERCOPITHECUS; GENETICS; HIPPOCAMPUS; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; SEIZURE; SEQUENCE HOMOLOGY;

MUS;

ANIMALS; BASE SEQUENCE; CENTRAL NERVOUS SYSTEM; CERCOPITHECUS AETHIOPS; COS CELLS; HIPPOCAMPUS; MALE; MICE; MICE, INBRED C57BL; MOLECULAR SEQUENCE DATA; MUTATION; SEIZURES; SEQUENCE HOMOLOGY, NUCLEIC ACID; SODIUM-POTASSIUM-EXCHANGING ATPASE;

EID: 69549108667     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0904817106     Document Type: Article

References (34)

1. Hauser WA, Hesdorffer DC (1990) in Epilepsy: Frequency, Causes and Consequences (Demos Press, New York).
2. Schmidt D, Löscher W (2005) Drug resistance in epilepsy: Putative neurobiologic and clinical mechanisms. Epilepsia 46:858-877. (Pubitemid 40847354)
3. +-ATPase to focal epilepsy: A brief review. Epilepsy Res 12:141-149.
4. HaglundMM,SchwartzkroinPA(1990) Role of Na-Kpumppotassium regulationandIPSPs in seizures and spreading depression in immature rabbit hippocampal slices. J Neurophysiol 63:225-239.
5. Somjen GG (2002) Ion regulation in the brain: Implications for pathophysiology. Neuroscientist 8:254-267.
6. Pietrobon D (2005) Migraine: New molecular mechanisms. Neuroscientist 11:373-386.
7. Davidson DL, Tsukada Y, Barbeau A (1978) Ouabain induced seizures: Site of production and response to anticonvulsants. Can J Neurol Sci 5:405-411. (Pubitemid 9041131)
8. Xiong ZQ, Stringer JL (2000) Sodium pump activity, not glial spatial buffering, clears potassium after epileptiform activity induced in the dentate gyrus. J Neurophysiol 83:1443-1451.
9. +-ATPases in the rat CA1 hippocampal region. J Neurophysiol 88:2963-2978.
10. Gallanti A, et al. (2008) A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures. J Neurol Sci 273:123-126.
11. McGrail KM, Phillips JM, Sweadner KJ (1991) Immunofluorescent localization of three Na,K-ATPase isozymes in the rat central nervous system: Both neurons and glia can express more than one Na,K-ATPase. J Neurosci 11:381-391.
12. Brashear A, et al. (2007) The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain 130:828-835. (Pubitemid 46410729)
13. + interaction by distinct mechanisms. J Biol Chem 281:18539-18548.
14. SneadOC,ClapcoteSJ,RoderJC,BoulianneGL(2006)Novelstrategies forthedevelopment of animal models of refractory epilepsy. Adv Neurol 97:155-171.
15. +-ATPase. FEBS Lett 314:301-307.
16. Morth JP, et al. (2007) Crystal structure of the sodium-potassium pump. Nature 450:1043-1049.
17. Avoli M, et al. (2002) Network and pharmacological mechanisms leading to epileptiform synchronization in the limbic system in vitro. Prog Neurobiol 68:167-207. (Pubitemid 35346804)
18. Tancredi V, Hwa GG, Zona C, Brancati A, AvoliM(1990) Low magnesium epileptogenesis in the rat hippocampal slice: Electrophysiological and pharmacological features. Brain Res 511:280-290.
19. McNamara JO, Huang YZ, Leonard AS (2006) Molecular signaling mechanisms underlying epileptogenesis. Sci STKE 356:12.
20. +-ATPase is a neuronal receptor for agrin. Cell 125:359-369.
21. Moseley AE, et al. (2007) Deficiency in Na,K-ATPase α isoform genes alters spatial learning, motor activity, and anxiety in mice. J Neurosci 27:616-626.
22. Misawa H, et al. (2002) Identification of a monogenic locus (jams1) causing juvenile audiogenic seizures in mice. J Neurosci 22:10088-10093. (Pubitemid 35416847)
23. Yang Y, Frankel WN (2004) Genetic approaches to studying mouse models of human seizure disorders. Adv Exp Med Biol 548:1-11. (Pubitemid 38979610)
24. Ikeda K, et al. (2003) Degeneration of the amygdala/piriform cortex and enhanced fear/anxiety behaviors in sodium pump α2 subunit (Atp1a2)-deficient mice. J Neurosci 23:4667-4676. (Pubitemid 36706195)
25. Wang J, et al. (2003) Interaction of calcineurin and type-A GABA receptor gamma 2 subunits produces long-term depression at CA1 inhibitory synapses. J Neurosci 23:826-836. (Pubitemid 36206173)
26. Goodkin HP, Yeh JL, Kapur J (2005) Status epilepticus increases the intracellular accumulation of GABAA receptors. J Neurosci 25:5511-5520.
27. Price EM, Lingrel JB (1988) Structure-function relationships in the Na,K-ATPase alpha subunit: Site-directed mutagenesis of glutamine-111 to arginine and asparagine-122 to aspartic acid generates a ouabain-resistant enzyme. Biochemistry 27:8400-8408.
28. Cortez MA, McKerlie C, Snead OC (2001) A model of atypical absence seizures: EEG, pharmacology, and developmental characterization. Neurology 56:341-349. (Pubitemid 32144145)
29. Ralph-Williams RJ, Paulus MP, Zhuang X, Hen R, Geyer MA (2003) Valproate attenuates hyperactive and perseverative behaviors in mutant mice with a dysregulated dopamine system. Biol Psychiatry 53:352-359. (Pubitemid 36173965)
30. Duffy S, Labrie V, Roder JC (2008) D-serine augments NMDA-NR2B receptor-dependent hippocampal long-term depression and spatial reversal learning. Neuropsychopharmacology 33:1004-1018.
31. Clapcote SJ, et al. (2007) Behavioral phenotypes of Disc1 missense mutations in mice. Neuron 54:387-402.
32. Wood DD, et al. (2008) Myelin localization of peptidylarginine deiminases 2 and 4: Comparison of PAD2 and PAD4 activities. Lab Invest 88:354-364.
33. 2+-ATPase expressed in COS-1 cells. Proc Natl Acad Sci USA 85:3314-3318.
34. Liao D, Scannevin RH, Huganir R (2001) Activation of silent synapses by rapid activity-dependent synaptic recruitment of AMPA receptors. J Neurosci 21:6008-6017. (Pubitemid 32737734)