Lack of parvalbumin in mice leads to behavioral deficits relevant to all human autism core symptoms and related neural morphofunctional abnormalities
Tóm tắt
Từ khóa
Tài liệu tham khảo
APA DSM-5 - Diagnostic And Statistical Manual Of Mental Disorders. American Psychiatric Publishing: Arlington, VA, USA, 2013.
Abrahams BS, Geschwind DH . Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet 2008; 9: 341–355.
Ebert DH, Greenberg ME . Activity-dependent neuronal signalling and autism spectrum disorder. Nature 2013; 493: 327–337.
Toro R, Konyukh M, Delorme R, Leblond C, Chaste P, Fauchereau F et al. Key role for gene dosage and synaptic homeostasis in autism spectrum disorders. Trends Genet 2010; 26: 363–372.
Weiss LA, Arking DE, Daly MJ, Chakravarti A . A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009; 461: 802–808.
Ben-David E, Shifman S . Networks of neuronal genes affected by common and rare variants in autism spectrum disorders. PLoS Genet 2012; 8: e1002556.
Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S et al. Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature 2011; 474: 380–384.
Kawaguchi Y, Kubota Y . Neurochemical features and synaptic connections of large physiologically-identified GABAergic cells in the rat frontal cortex. Neuroscience 1998; 85: 677–701.
Oldham MC, Konopka G, Iwamoto K, Langfelder P, Kato T, Horvath S et al. Functional organization of the transcriptome in human brain. Nat Neurosci 2008; 11: 1271–1282.
Zikopoulos B, Barbas H . Altered neural connectivity in excitatory and inhibitory cortical circuits in autism. Front Hum Neurosci 2013; 7: 609.
Stoner R, Chow ML, Boyle MP, Sunkin SM, Mouton PR, Roy S et al. Patches of disorganization in the neocortex of children with autism. N Engl J Med 2014; 370: 1209–1219.
Berridge MJ . Dysregulation of neural calcium signaling in Alzheimer disease, bipolar disorder and schizophrenia. Prion 2013; 7: 2–13.
Lewis DA, Hashimoto T, Volk DW . Cortical inhibitory neurons and schizophrenia. Nat Rev Neurosci 2005; 6: 312–324.
Jamain S, Radyushkin K, Hammerschmidt K, Granon S, Boretius S, Varoqueaux F et al. Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism. Proc Natl Acad Sci USA 2008; 105: 1710–1715.
Ey E, Leblond CS, Bourgeron T . Behavioral profiles of mouse models for autism spectrum disorders. Aut Res 2011; 4: 5–16.
Silverman JL, Yang M, Lord C, Crawley JN . Behavioural phenotyping assays for mouse models of autism. Nat Rev Neurosci 2010; 11: 490–502.
Yang M, Bozdagi O, Scattoni ML, Wohr M, Roullet FI, Katz AM et al. Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice. J Neurosci 2012; 32: 6525–6541.
Penagarikano O, Abrahams BS, Herman EI, Winden KD, Gdalyahu A, Dong H et al. Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. Cell 2011; 147: 235–246.
Martins GJ, Shahrokh M, Powell EM . Genetic disruption of Met signaling impairs GABAergic striatal development and cognition. Neuroscience 2011; 176: 199–209.
Selby L, Zhang C, Sun QQ . Major defects in neocortical GABAergic inhibitory circuits in mice lacking the fragile X mental retardation protein. Neurosci Lett 2007; 412: 227–232.
Gogolla N, Leblanc JJ, Quast KB, Sudhof TC, Fagiolini M, Hensch TK . Common circuit defect of excitatory-inhibitory balance in mouse models of autism. J Neurodev Disord 2009; 1: 172–181.
Gant JC, Thibault O, Blalock EM, Yang J, Bachstetter A, Kotick J et al. Decreased number of interneurons and increased seizures in neuropilin 2 deficient mice: implications for autism and epilepsy. Epilepsia 2009; 50: 629–645.
Vreugdenhil M, Jefferys JG, Celio MR, Schwaller B . Parvalbumin-deficiency facilitates repetitive IPSCs and gamma oscillations in the hippocampus. J Neurophysiol 2003; 89: 1414–1422.
Schwaller B, Tetko IV, Tandon P, Silveira DC, Vreugdenhil M, Henzi T et al. Parvalbumin deficiency affects network properties resulting in increased susceptibility to epileptic seizures. Mol Cell Neurosci 2004; 25: 650–663.
Collin T, Chat M, Lucas MG, Moreno H, Racay P, Schwaller B et al. Developmental changes in parvalbumin regulate presynaptic Ca2+ signaling. J Neurosci 2005; 25: 96–107.
Eggermann E, Jonas P . How the 'slow' Ca(2+) buffer parvalbumin affects transmitter release in nanodomain-coupling regimes. Nat Neurosci 2012; 15: 20–22.
Orduz D, Bischop DP, Schwaller B, Schiffmann SN, Gall D . Parvalbumin tunes spike-timing and efferent short-term plasticity in striatal fast spiking interneurons. J Physiol 2013; 591: 3215–3232.
Manseau F, Marinelli S, Mendez P, Schwaller B, Prince DA, Huguenard JR et al. Desynchronization of neocortical networks by asynchronous release of GABA at autaptic and synaptic contacts from fast-spiking interneurons. PLoS Biol 2010; 8: e1000492.
Alberi L, Lintas A, Kretz R, Schwaller B, Villa AE . The calcium-binding protein parvalbumin modulates the firing 1 properties of the reticular thalamic nucleus bursting neurons. J Neurophysiol 2013; 109: 2827–2841.
Etherton M, Foldy C, Sharma M, Tabuchi K, Liu X, Shamloo M et al. Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function. Proc Natl Acad Sci USA 2011; 108: 13764–13769.
Palmen SJ, van Engeland H, Hof PR, Schmitz C . Neuropathological findings in autism. Brain 2004; 127: 2572–2583.
Moreno H, Burghardt NS, Vela-Duarte D, Masciotti J, Hua F, Fenton AA et al. The absence of the calcium-buffering protein calbindin is associated with faster age-related decline in hippocampal metabolism. Hippocampus 2012; 22: 1107–1120.
Terranova ML, Laviola G . Scoring of social interactions and play in mice during adolescence. Curr Protoc Toxicol 2005; Chapter 13: Unit13 0.
Wohr M, Roullet FI, Hung AY, Sheng M, Crawley JN . Communication impairments in mice lacking Shank1: reduced levels of ultrasonic vocalizations and scent marking behavior. PloS One 2011; 6: e20631.
Wohr M, Silverman JL, Scattoni ML, Turner SM, Harris MJ, Saxena R et al. Developmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroligin2. Behav Brain Res 2013; 251: 50–64.
Moy SS, Nadler JJ, Young NB, Perez A, Holloway LP, Barbaro RP et al. Mouse behavioral tasks relevant to autism: phenotypes of 10 inbred strains. Behav Brain Res 2007; 176: 4–20.
Mohajeri MH, Madani R, Saini K, Lipp HP, Nitsch RM, Wolfer DP . The impact of genetic background on neurodegeneration and behavior in seizured mice. Genes Brain Behav 2004; 3: 228–239.
Olton DS, Samuelson RI . Remembrance of places passed: spatial memory in rats. J Exp Psychol Anim Behav Process 1976; 2: 97–116.
Lang UE, Wolfer DP, Grahammer F, Strutz-Seebohm N, Seebohm G, Lipp HP et al. Reduced locomotion in the serum and glucocorticoid inducible kinase 3 knock out mouse. Behav Brain Res 2006; 167: 75–86.
Tremml P, Lipp HP, Muller U, Ricceri L, Wolfer DP . Neurobehavioral development, adult openfield exploration and swimming navigation learning in mice with a modified beta-amyloid precursor protein gene. Behav Brain Res 1998; 95: 65–76.
Madani R, Kozlov S, Akhmedov A, Cinelli P, Kinter J, Lipp HP et al. Impaired explorative behavior and neophobia in genetically modified mice lacking or overexpressing the extracellular serine protease inhibitor neuroserpin. Mol Cell Neurosci 2003; 23: 473–494.
Moreno H, Hua F, Brown T, Small S . Longitudinal mapping of mouse cerebral blood volume with MRI. NMR Biomed 2006; 19: 535–543.
Meyer AH, Katona I, Blatow M, Rozov A, Monyer H . In vivo labeling of parvalbumin-positive interneurons and analysis of electrical coupling in identified neurons. J Neurosci 2002; 22: 7055–7064.
Sholl DA . Dendritic organization in the neurons of the visual and motor cortices of the cat. J Anat 1953; 87: 387–406.
Batschelet E . Circular Statistics in Biology. Academic Press: London, UK, 1981.
Wohr M, Schwarting RK . Affective communication in rodents: ultrasonic vocalizations as a tool for research on emotion and motivation. Cell Tissue Res 2013; 354: 81–97.
Scattoni ML, Crawley J, Ricceri L . Ultrasonic vocalizations: a tool for behavioural phenotyping of mouse models of neurodevelopmental disorders. Neurosci Biobehav Rev 2009; 33: 508–515.
del Rio JA, de Lecea L, Ferrer I, Soriano E . The development of parvalbumin-immunoreactivity in the neocortex of the mouse. Brain Res Dev Brain Res 1994; 81: 247–259.
Tuchman R, Cuccaro M, Alessandri M . Autism and epilepsy: historical perspective. Brain Dev 2010; 32: 709–718.
Farre-Castany MA, Schwaller B, Gregory P, Barski J, Mariethoz C, Eriksson JL et al. Differences in locomotor behavior revealed in mice deficient for the calcium-binding proteins parvalbumin, calbindin D-28k or both. Behav Brain Res 2007; 178: 250–261.
Wang SS, Kloth AD, Badura A . The cerebellum, sensitive periods, and autism. Neuron 2014; 83: 518–532.
Caillard O, Moreno H, Schwaller B, Llano I, Celio MR, Marty A . Role of the calcium-binding protein parvalbumin in short-term synaptic plasticity. Proc Natl Acad Sci USA 2000; 97: 13372–13377.
Pedroarena CM, Schwarz C . Efficacy and short-term plasticity at GABAergic synapses between Purkinje and cerebellar nuclei neurons. J Neurophysiol 2003; 89: 704–715.
Vitureira N, Letellier M, Goda Y . Homeostatic synaptic plasticity: from single synapses to neural circuits. Curr Opin Neurobiol 2012; 22: 516–521.
Turrigiano G . Homeostatic synaptic plasticity: local and global mechanisms for stabilizing neuronal function. Cold Spring Harb Persp Biol 2012; 4: a005736.
Baudouin SJ, Gaudias J, Gerharz S, Hatstatt L, Zhou K, Punnakkal P et al. Shared synaptic pathophysiology in syndromic and nonsyndromic rodent models of autism. Science 2012; 338: 128–132.
Rubenstein JL, Merzenich MM . Model of autism: increased ratio of excitation/inhibition in key neural systems. Genes Brain Behav 2003; 2: 255–267.
Zeidan-Chulia F, Rybarczyk-Filho JL, Salmina AB, de Oliveira BH, Noda M, Moreira JC . Exploring the multifactorial nature of autism through computational systems biology: calcium and the Rho GTPase RAC1 under the spotlight. Neuromol Med 2013; 15: 364–383.
Krey JF, Dolmetsch RE . Molecular mechanisms of autism: a possible role for Ca2+ signaling. Curr Opin Neurobiol 2007; 17: 112–119.
Meyer U, Nyffeler M, Schwendener S, Knuesel I, Yee BK, Feldon J . Relative prenatal and postnatal maternal contributions to schizophrenia-related neurochemical dysfunction after in utero immune challenge. Neuropsychopharmacology 2008; 33: 441–456.
Fatemi SH, Aldinger KA, Ashwood P, Bauman ML, Blaha CD, Blatt GJ et al. Consensus paper: pathological role of the cerebellum in autism. Cerebellum 2012; 11: 777–807.
Gudrunardottir T, Sehested A, Juhler M, Schmiegelow K . Cerebellar mutism: review of the literature. Childs Nerv Syst 2011; 27: 355–363.
Kim YS, Harry GJ, Kang HS, Goulding D, Wine RN, Kissling GE et al. Altered cerebellar development in nuclear receptor TAK1/ TR4 null mice is associated with deficits in GLAST(+) glia, alterations in social behavior, motor learning, startle reactivity, and microglia. Cerebellum 2010; 9: 310–323.
Riva D, Giorgi C . The cerebellum contributes to higher functions during development: evidence from a series of children surgically treated for posterior fossa tumours. Brain 2000; 123: 1051–1061.
Tsai PT, Hull C, Chu Y, Greene-Colozzi E, Sadowski AR, Leech JM et al. Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. Nature 2012; 488: 647–651.
Martin LA, Goldowitz D, Mittleman G . Repetitive behavior and increased activity in mice with Purkinje cell loss: a model for understanding the role of cerebellar pathology in autism. Eur J Neurosci 2010; 31: 544–555.