Properties of the epileptiform activity in the cingulate cortex of a mouse model of LIS1 dysfunction

Brain Structure and Function - Tập 227 - Trang 1599-1614 - 2022
E. Domínguez-Sala1, A. Andreu-Cervera1, P. Martín-Climent1, R. Murcia-Ramón1, S. Martínez1,2, Emilio Geijo-Barrientos1
1Instituto de Neurociencias, Universidad Miguel Hernández-CSIC, Alicante, Spain
2Centro de Investigación Biomédica en Red en Salud Mental (CIBERSAM, Spain), Madrid, Spain

Tóm tắt

Dysfunction of the LIS1 gene causes lissencephaly, a drastic neurological disorder characterized by a deep disruption of the cortical structure. We aim to uncover alterations of the cortical neuronal networks related with the propagation of epileptiform activity in the Lis1/sLis1 mouse, a model lacking the LisH domain in heterozygosis. We did extracellular field-potential and intracellular recordings in brain slices of the anterior cingulate cortex (ACC) or the retrosplenial cortex (RSC) to study epileptiform activity evoked in the presence of bicuculline (10 µM), a blocker of GABAA receptors. The sensitivity to bicuculline of the generation of epileptiform discharges was similar in wild type (WT) and Lis1/sLis1 cortex (EC50 1.99 and 2.24 µM, respectively). In the Lis1/sLis1 cortex, we observed a decreased frequency of the oscillatory post-discharges of the epileptiform events; also, the propagation of epileptiform events along layer 2/3 was slower in the Lis1/sLis1 cortex (WT 47.69 ± 2.16 mm/s, n = 25; Lis1/sLis1 37.34 ± 2.43 mm/s, n = 15; p = 0.004). The intrinsic electrophysiological properties of layer 2/3 pyramidal neurons were similar in WT and Lis1/sLis1 cortex, but the frequency of the spontaneous EPSCs was lower and their peak amplitude higher in Lis1/sLis1 pyramidal neurons. Finally, the propagation of epileptiform activity was differently affected by AMPA receptor blockers: CNQX had a larger effect in both ACC and RSC while GYKI53655 had a larger effect only in the ACC in the WT and Lis1/sLis1 cortex. All these changes indicate that the dysfunction of the LIS1 gene causes abnormalities in the properties of epileptiform discharges and in their propagation along the layer 2/3 in the anterior cingulate cortex and in the restrosplenial cortex.

Tài liệu tham khảo

Alefeld M, Sutor B, Luhmann HJ (1998) Pattern and pharmacology of propagating epileptiform activity in mouse cerebral cortex. Exp Neurol 153(1):113–122 Avoli M, D’Antuono M, Louvel J, Köhling R, Biagini G, Pumain R, D’Arcangelo G, Tancredi V (2002) Network and pharmacological mechanisms leading to epileptiform synchronization in the limbic system in vitro. Prog Neurobiol 68(3):167–207 Bonnot A, Chub N, Pujala A, O’Donnovan MJ (2009) Excitatory actions of ventral root stimulation during network activity generated by the disinhibited neonatal mouse spinal cord. J Neurophysiol 101(6):2995–3011 Cahana A, Escamez T, Nowakowski RS, Hayes NL, Giacobini MB, Von Holst A, Shmueli O, Sapir T, McConnell SK, Wurst W, Martinez S, Reiner O (2001) Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization. PNAS 98(11):6429–6434 Cardoso C, Leventer RJ, Matsumoto N et al (2000) The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum Mol Genet 9(20):3019–3028 Castro-Alamancos A, Rigas P (2002) Synchronized oscillations caused by disinhibition in rodent neocortex are generated by recurrent synaptic activity mediated by AMPA receptors. J Physiol 542:567–581 Chagnac-Amitai Y, Connors BW (1989) Horizontal spread of synchronized activity in neocortex and its control by GABA-mediated inhibition. J Neurophysiol 61:747–758 Chong SS, Pack SD, Roschke AV et al (1997) A revision of the lissencephaly and Miller-Dieker Syndrome critical regions in chromosome 17p13.3. Hum Mol Genet 6(2):147–155 Clark GD, Happel LT, Zorumski CF et al (1992) Enhancement of hippocampal excitatory synaptic transmission by platelet-activating factor. Neuron 9:1211–1216 De Curtis M, Jefferys JGR, Avoli M (2012) Interictal epileptiform discharges in partial epilepsy. In: Noebels JL, Avoli M, Ragawski MA, Olsen RW, Delgado-Escueta AV (eds) “Jasper’s basic mechanisms of the epilepsies” (internet), 4th edn. National Center for Biotechnology Information (US), Bethesda Dinday MT, Girskis KM, Lee S, Baraban SC, Hunt RF (2018) PAFAH1B1 haploinsufficiency disrupts GABA neurons and synaptic E/I balance in the dentate gyrus. Sci Rep 8(1):6781–6791 Dobyns WB (1993) Lissencephaly: a human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA 270(23):2838–2842 Dobyns WB (2010) The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia. Epilepsia 51(Suppl. 1):5–9 Escámez T, Bahamonde O, Tanares-Seisdedos R, Vieta E, Martínez S, Echevarria D (2012) Developmental dynamics of PAFAH1B subunits during mouse brain development. J Comp Neurol 520:3877–3894 Fleck MW, Hirotsune S, Gambello MJ et al (2000) Hippocampal abnormalities and enhanced excitability in a murine model of human lissencephaly. J Neurosci 20(7):2439–2450 Fogli A, Guerrini R, Moro F, Fernandez-Alvarez E, Livet MO, Renieri A, Cioni M, Pilz DT, Veggiotti P, Rossi E, Ballabio A, Carrozzo R (1999) Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. Ann Neurol 45(2):154–161 Fucile S, Miledi R, Eusebi F (2006) Effects of cyclothiazide on GluR1/AMPA receptors. Proc Natl Acad Sci USA 103(8):2943–2947 Gopal PP, Simonet JS, Shapiro W et al (2009) Leading process branch instability in Lis1+/- nonradially migrating interneurons. Cereb Cortex 20:1497–1505 Greenwood JS, Wang Y, Estrada RC, Ackerman L, Ohara PT, Baraban SC (2009) Seizures enhanced excitation, and increased vesicle number in Lis1 mutant mice. Ann Neurol 66(5):644–653 Hattori M, Adachi H, Tsujimoto M et al (1994) Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase. Nature 370:216–218 Hirotsune S, Fleck MW, Gambello MJ, Bix GJ, Chen A, Clark GD, Ledbetter DH, McBain CJ, Wynshaw-Boris A (1998) Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality. Nat Genet 19(4):333–339 Hunt RF, Dinday MT, Hindle-Katel W et al (2012) LIS1 deficiency promotes dysfunctional synaptic integration of granule cells generated in the developing and adult dentate gyrus. J Neurosci 32(37):12862–12875 Jones DL, Baraban SC (2007) Characterization of inhibitory circuits in the malformed hippocampus of Lis1 mutant mice. J Neurophysiol 98:2737–2746 Kurotani T, Miyashita T, Wintzer M, Konishi T, Sakai K, Ichinohe N, Rockland KS (2013) Pyramidal neurons in the superficial layers of rat retrosplenial cortex exhibit a late-spiking firing property. Brain Struct Funct 218:239–254. https://doi.org/10.1007/s00429-012-0398-1 Lo Nigro C, Chong CS, Smith AC et al (1997) Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet 6:157–164 Paternain AV, Morales M, Lerma J (1995) Selective antagonism of AMPA receptors unmasks kainate receptor-mediated responses in hippocampal neurons. Neuron 14(1):185–189 Paxinos G, Franklin KBJ (2011) The mouse brain in stereotaxic coordinates, 2nd edn. Academic Press, San Diego Pinto JD, Patrick SL, Huang WC et al (2005) Initiation, propagation, and termination of epileptiform activity in rodent neocortex in vitro involve distinct mechanisms. J Neurosci 25(36):8131–8140 Reiner O, Sapir T (2013) LIS1 dysfunction in normal development and disease. Curr Opin Neurobiol 23(6):951–956 Reiner O, Carrozzo R, Shen Y et al (1993) Isolation of a Miller-Dicker lissencephaly gene containing G protein β-subunit-like repeats. Nature 364:717–721 Reiner O, Cahana A, Escamez T et al (2002) LIS1—no more no less. Mol Psychiatry 7(1):12–16 Robles RM, Dominguez-Sala E, Martinez S, Geijo-Barrientos E (2020) Layer 2/3 pyramidal neurons of the mouse granular retrosplenial cortex and their innervation by cortico-cortical axons. Front Neural Circ 14:5764 Rovira V, Geijo-Barrientos E (2016) Intra- and interhemispheric propagation of electrophysiological synchronous activity and its modulation by serotonin in the cingulate cortex of juvenile mice. PLoS ONE 11(3):e0150092 Saillour Y, Carion N, Quelin C (2009) LIS1-related isolated lissencephaly. Spectrum of mutations and relationships with malformation severity. Arch Neurol 66(8):1007–1015 Sempere-Ferràndez A, Andrés-Bayón B, Geijo-Barrientos E (2018) Callosal responses in a retrosplenial column. Brain Struct Funct 223(3):1051–1069 Uyanik G, Morris-Rosendahl DJ, Stiegler J et al (2007) Location and type of mutation in the LIS1 gene do not predict phenotypic severity. Neurology 69(5):442–447 Valdés-Sánchez L, Escámez T, Echevarria D et al (2007) Postnatal alterations of the inhibitory synaptic responses recorded from cortical pyramidal neurons in the Lis1/sLis1 mutant mouse. Mol Cel Neurosci 35(2):220–229 Vogt BA, Paxinos G (2012) Cytoarchitecture of mouse and rat cingulate cortex with human homologies. Brain Struct Funct 219(1):185–192 Walker J, Storch G, Bonnie Quach-Wong B et al (2012) Propagation of epileptiform events across the corpus callosum in a cingulate cortical slice preparation. PLoS ONE 7(2):e31415 Wang Y, Baraban SC (2007) Granule cell dispersion and aberrant neurogenesis in the adult hippocampal of an LIS1 mutant mouse. Dev Neurosci 29:91–98 Wynshaw-Boris A, Gambello MJ (2001) LIS1 and dynein motor function in neuronal migration and development. Genes Dev 15(6):639–651 Yuan T, Bellone C (2013) Glutamatergic receptors at developing synapses: the role of GluN3-containing NMDA receptors and GluA2-lacking receptors. Eur J Neurosci 719:107–111