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HERVs Expression in Autism Spectrum Disorders 英文参考文献.doc

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HERVs Expression in Autism Spectrum Disorders 英文参考文献

HERVsExpressioninAutismSpectrumDisorders EmanuelaBalestrieri1,CarlaArpino2,ClaudiaMatteucci1,RobertaSorrentino1,FrancescaPica1, RiccardoAlessandrelli2,AntonellaConiglio2,PaoloCuratolo2,GiovanniRezza3,FabioMacciardi4,5,6, EnricoGaraci1,SimonaGaudi3,PaolaSinibaldi-Vallebona1* 1DepartmentofExperimentalMedicineandBiochemicalSciences,UniversityofRome‘‘TorVergata’’,Rome,Italy,2PediatricNeurologyUnit,NeuroscienceDepartment, University of Rome ‘‘Tor Vergata’’, Rome, Italy, 3Department of Infectious, Parasitic and Immune-Mediated Diseases, Italian National Institute of Health, Rome, Italy, 4DepartmentofPsychiatryandHumanBehavior,UniversityofCaliforniaIrvine,Irvine,California,UnitedStatesofAmerica,5DepartmentofPsychiatryandtheBehavioral Sciences,KeckSchoolofMedicineatUniversityofSouthernCalifornia,LosAngeles,California,UnitedStatesofAmerica,6DepartmentofMedicine,SurgeryandDentistry, UniversityofMilan,Milan,Italy Abstract Background:AutisticSpectrumDisorder(ASD)isaheterogeneousneurodevelopmentaldisorder,resultingfromcomplex interactions among genetic, genomic and environmental factors. Here we have studied the expression of Human Endogenous Retroviruses (HERVs), non-coding DNA elements with potential regulatory functions, and have tested their possibleimplicationinautism. Methods:ThepresenceofretroviralmRNAsfromfourHERVfamilies(E,H,KandW),widelyimplicatedincomplexdiseases, wasevaluatedinperipheralbloodmononuclearcells(PBMCs)fromASDpatientsandhealthycontrols(HCs)byqualitative RT-PCR.WealsoanalyzedtheexpressionoftheenvsequencefromHERV-H,HERV-WandHERV-KfamiliesinPBMCsatthe timeofsamplingandafterstimulationinculture,inbothASDandHCgroups,byquantitativeReal-timePCR.Differences betweengroupswereevaluatedusingstatisticalmethods. Results:ThepercentageofHERV-HandHERV-WpositivesampleswashigheramongASDpatientscomparedtoHCs,while HERV-KwassimilarlyrepresentedandHERV-Evirtuallyabsentinbothgroups.ThequantitativeevaluationshowsthatHERV- H and HERV-W are differentially expressed in the two g