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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
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