Autism-Associated Gene Expression in Peripheral Leucocytes Commonly Observed between Subjects with Autism and Healthy Women Having Autistic Children 英文参考文献.docVIP

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Autism-Associated Gene Expression in Peripheral Leucocytes Commonly Observed between Subjects with Autism and Healthy Women Having Autistic Children 英文参考文献.doc

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Autism-Associated Gene Expression in Peripheral Leucocytes Commonly Observed between Subjects with Autism and Healthy Women Having Autistic Children 英文参考文献

Autism-AssociatedGeneExpressioninPeripheral LeucocytesCommonlyObservedbetweenSubjectswith AutismandHealthyWomenHavingAutisticChildren YukiKuwano1*,YokoKamio2,TomokoKawai1,SakurakoKatsuura1,NaokoInada2,AkikoTakaki3, KazuhitoRokutan1 1DepartmentofStressScience,InstituteofHealthBiosciences,TheUniversityofTokushimaGraduateSchool,Tokushima,Japan,2DepartmentofChildandAdolescent Mental Health, National Institute of Psychiatry, National Center of Neurology and Psychiatry, Tokyo, Japan, 3Chichibu-Gakuen Institution and Clinic for Intellectually DisabledChildren,NationalRehabilitationCenterforPersonswithDisabilities,Saitama,Japan Abstract Autism spectrum disorder (ASD) is a severe neuropsychiatric disorder which has complex pathobiology with profound influences of genetic factors in its development. Although the numerous autism susceptible genes were identified, the etiologyofautismisnotfullyexplained.UsingDNAmicroarray,weexaminedgeneexpressionprofilinginperipheralblood from21individualsineachofthefourgroups;youngadultswithASD,age-andgender-matchedhealthysubjects(ASD control),healthymothershavingchildrenwithASD(asdMO),andasdMOcontrol.Therewasnobloodrelationshipbetween ASDandasdMO.ComparingtheASDgroupwithcontrol,19geneswerefoundtobesignificantlychanged.Thesegenes weremainlyinvolvedincellmorphology,cellularassemblyandorganization,andnervesystemdevelopmentandfunction. In addition, the asdMO group possessed a unique gene expression signature shown as significant alterations of protein synthesis despite of their nonautistic diagnostic status. Moreover, an ASD-associated gene expression signature was commonlyobservedinbothindividualswithASDandasdMO.Thisuniquegeneexpressionprofilingdetectedinperipheral leukocytes from affected subjects with ASD and unaffected mothers having ASD children suggest that a genetic predispositiontoASDmaybedetectableeveninperipheralcells.Alteredexpressionofseveralautismcandidategenessuch as FMR-1 and MECP2, could be detected in leukocytes. Taken together