Translational Anatomy and Cell Biology of Autism Spectrum Disorder

216 Pages·2017·4.541 MB·English

by  Michael J. Schmeisser, Tobias M. Boeckers (eds.)

Advances in Anatomy, Embryology and Cell Biology
Michael J. Schmeisser
Tobias M. Boeckers Editors
Translational
Anatomy and Cell
Biology of Autism
Spectrum Disorder
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Editors
Prof.Dr.T.M.BOECKERS,Institutfu¨rAnatomieundZellbiologie,Universita¨tUlm,Ulm,Germany
e-mail:[email protected]
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UniversidadAuto´nomadeMadrid,Ave.ArzobispoMorcillos/n,28029Madrid,Spain
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224
Advances in Anatomy,
Embryology
and Cell Biology
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Michael J. Schmeisser (cid:129)
Tobias M. Boeckers
Editors
Translational
Anatomy and Cell
Biology of Autism
Spectrum Disorder
Editors
MichaelJ.Schmeisser TobiasM.Boeckers
InstituteforAnatomyandCellBiology InstituteforAnatomyandCellBiology
UlmUniversity UlmUniversity
Ulm,Germany Ulm,Germany
DivisionofNeuroanatomy
InstituteofAnatomy
Otto-von-GuerickeUniversity
Magdeburg,Germany
LeibnizInstituteforNeurobiology
Magdeburg,Germany
ISSN0301-5556 ISSN2192-7065 (electronic)
AdvancesinAnatomy,EmbryologyandCellBiology
ISBN978-3-319-52496-2 ISBN978-3-319-52498-6 (eBook)
DOI10.1007/978-3-319-52498-6
LibraryofCongressControlNumber:2017942780
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Preface
Autismspectrumdisorder(ASD)isacomplexandheterogeneousneurodevelopmental
condition clinically defined by a core symptomatology including an impairment of
socialinteractionandcommunicationandthepresenceofrestricted,repetitivebehav-
iours. In addition, individuals with ASD can suffer from a variety of comorbidities
rangingfromintellectualdisabilitytoepilepsyandgastrointestinaldysfunction.
Withaprevalenceofapproximately1%,andonlyfewtherapeuticoptionsthus
far,ASDhasbecomeanincreasingburdenforoursociety.Importantly,researchon
ASD—ongoing since its first description in the literature in the 1940s—has made
major advances throughout the last decade with the discovery of defined genetic
mutationsinaffectedindividuals.Consideringthefactthatthesemutationscanbe
studied in modelsystems including cell culture and genetically modified animals,
firsthypothesesaboutthecellularandmolecularunderpinningsofASDhavebeen
emerging. As many of the so-called ASD genes encode proteins essentially
involved in the development of neural circuits and excitatory synapses and the
observation that corresponding model systems often show neural circuit and syn-
aptic dysfunction, it can be stated that ASD might derive from an aberrant devel-
opment of brain circuitry. However, we are still at the very beginning of
understanding the nature of ASD, and focused research is needed in the years to
cometouncoverunderlyingmechanismsandtranslatethesefindingsfrombenchto
bedsidetofurtherdevelopeffectivetreatments.
Thisspecialvolumeintendstoprovideastate-of-the-artinsightintotranslational
ASD research with a special focus on anatomy and cell biology. International
experts from the field including several members of the EU-AIMS programme
launchedbytheInnovativeMedicinesInitiativeoftheEuropeanUniontodevelop
newmedicationsforASDhavecontributedchaptersonallaspectsoftranslational
ASD research. These include reviews on human genetics, human anatomy, stem
cell-derived cellular models and a whole variety of animal models. Overall, their
primary objective is to clarify how the identification of anatomical and cell
v
vi Preface
biologicalphenotypesofASDinbothhumansandtheappropriatemodelsystems
will help to translate basic mechanisms to clinical practice and efficiently treat
affectedindividualsinthefuture.
UlmandMagdeburg,Germany MichaelJ.Schmeisser
Ulm,Germany TobiasM.Boeckers
Contents
1 AnatomyandCellBiologyofAutismSpectrumDisorder:Lessons
fromHumanGenetics. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1
KristelT.E.Kleijer,GuillaumeHuguet,JulieTastet,ThomasBourgeron,
andJ.P.H.Burbach
2 NeuroanatomyandNeuropathologyofAutismSpectrumDisorder
inHumans. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 27
ChristineEcker,MichaelJ.Schmeisser,EvaLoth,
andDeclanG.Murphy
3 ModellingAutisticNeuronswithInducedPluripotentStem
Cells. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 49
AnnieKathuria,CarloSala,ChiaraVerpelli,andJackPrice
4 ModellingAutisticFeaturesinMiceUsingQuantitativeGenetic
Approaches. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 65
RemcoT.Molenhuis,HilgoBruining,andMartienJ.Kas
5 BehaviouralPhenotypesandNeuralCircuitDysfunctionsinMouse
ModelsofAutismSpectrumDisorder. . . . . . . . . . . . . . . . . . . . . . . 85
Allain-ThibeaultFerhat,SonjaHalbedl,MichaelJ.Schmeisser,
MartienJ.Kas,ThomasBourgeron,andElodieEy
6 CerebellarandStriatalPathologiesinMouseModelsofAutism
SpectrumDisorder. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 103
SasˇaPeter,ChrisI.DeZeeuw,TobiasM.Boeckers,
andMichaelJ.Schmeisser
7 NeurotrophicFactorsinMouseModelsofAutismSpectrum
Disorder:FocusonBDNFandIGF-1. . . . . . . . . . . . . . . . . . . . . . . 121
DominikReimandMichaelJ.Schmeisser
vii
viii Contents
8 TheRoleoftheOxytocin/ArginineVasopressinSysteminAnimal
ModelsofAutismSpectrumDisorder. . . . . . . . . . . . . . . . . . . . . . . 135
RongZhang,Xin-JieXu,Hong-FengZhang,Song-PingHan,
andJi-ShengHan
9 ExtracerebralDysfunctioninAnimalModelsofAutismSpectrum
Disorder. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 159
ElisaL.Hill-Yardin,SonjaJ.McKeown,GaiaNovarino,
andAndreasM.Grabrucker
10 GeneticandPharmacologicalReversibilityofPhenotypesinMouse
ModelsofAutismSpectrumDisorder. . . . . . . . . . . . . . . . . . . . . . . 189
JanC.Schroeder,ElenaDeliu,GaiaNovarino,
andMichaelJ.Schmeisser
Chapter 1
Anatomy and Cell Biology of Autism
Spectrum Disorder: Lessons from Human
Genetics
KristelT.E.Kleijer,GuillaumeHuguet,JulieTastet,ThomasBourgeron,
andJ.P.H.Burbach
1.1 Introduction
Autismspectrumdisorder(ASD)describesagroupofneurodevelopmentalcondi-
tionsclinicallycharacterisedbyimpairedsocialinteractionandcommunicationand
the presence of restricted interests and stereotyped and repetitive behaviours
(Kanner 1943; Asperger 1944; Coleman and Gillberg 2012). Epidemiological
studies estimate that more than 1% of the general population could receive a
diagnosis of ASD (Elsabbagh et al. 2012; Developmental Disabilities Monitoring
K.T.E.Kleijer(cid:129)J.Tastet(cid:129)J.P.H.Burbach(*)
DepartmentofTranslationalNeuroscience,BrainCenterRudolfMagnus,UniversityMedical
CenterUtrecht,Utrecht,TheNetherlands
e-mail:[email protected]
G.Huguet
HumanGeneticsandCognitiveFunctions,InstitutPasteur,Paris,France
CNRSUMR3571Genes,SynapsesandCognition,InstitutPasteur,Paris,France
HumanGeneticsandCognitiveFunctions,UniversityParisDiderot,SorbonneParisCite´,
Paris,France
T.Bourgeron
HumanGeneticsandCognitiveFunctions,InstitutPasteur,Paris,France
CNRSUMR3571Genes,SynapsesandCognition,InstitutPasteur,Paris,France
HumanGeneticsandCognitiveFunctions,UniversityParisDiderot,SorbonneParisCite´,
Paris,France
FondaMentalFoundation,Cre´teil,France
GillbergNeuropsychiatryCentre,SahlgrenskaAcademy,UniversityofGothenburg,
Gothenburg,Sweden
©SpringerInternationalPublishingAG2017 1
M.J.Schmeisser,T.M.Boeckers(eds.),TranslationalAnatomyandCellBiologyof
AutismSpectrumDisorder,AdvancesinAnatomy,EmbryologyandCellBiology
224,DOI10.1007/978-3-319-52498-6_1