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　　标题：Researchersfindbiomarkerforautismthatmayaiddiagnostics
　　source：sciencedaily
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　　Byidentifyingakeysignalingdefectwithinaspecificmembranestructureinallcells，UniversityofCalifornia，Irvineresearchersbelieve，theyhavefoundbothapossiblereliablebiomarkerfordiagnosingcertainformsofautismandapotentialtherapeutictarget。
　　Dr。J。JayGargus，IanParkerandcolleaguesattheUCICenterforAutismRTranslationexaminedskinbiopsiesofpatientswiththreeverydifferentgenetictypesofthedisorder（fragileXsyndromeandtuberoussclerosis1and2）。Theydiscoveredthatacellularcalciumsignalingprocessinvolvingtheinositoltrisphosphatereceptorwasverymuchaltered。
　　ThisIP3Rfunctionaldefectwaslocatedintheendoplasmicreticulum，whichisamongthespecializedmembranecompartmentsincellscalledorganelles，andmayunderpincognitiveimpairmentsandpossiblydigestiveandimmuneproblemsassociatedwithautism。
　　Webelievethisfindingwillbeanotherarrowinthequiverforearlyandaccuratediagnosesofautismspectrumdisorders，saidGargus，directoroftheCenterforAutismRTbiophysics。Equallyexciting，italsopresentsatargetofamolecularclassalreadywellestablishedtobeusefulfordrugdiscovery。
　　StudyresultsappearonlineinTranslationalPsychiatry，aNaturepublication。
　　Autismspectrumdisorderisarangeofcomplexneurodevelopmentaldisordersaffecting2percentofU。S。children。ThesocialandeconomicburdenofASDisenormous，currentlyestimatedatmorethan66billionperyearintheU。S。alone。DrugdevelopmenthasprovenproblematicduetothelimitedunderstandingoftheunderlyingcausesofASD，asdemonstratedbytherecentfailureofseveralmuchanticipateddrugtrials。
　　Therearealsonocurrent，reliablediagnosticbiomarkersforASD。Geneticresearchhasidentifiedhundredsofgenesthatareinvolved，whichimpedesdiagnosisand，ultimately，drugdevelopment。Theresimplymaybetoomanytargets，eachwithtoosmallaneffect。
　　ManyofthesegenesassociatedwithASD，however，havebeenfoundtobepartofthesamesignalingpathway，andmultipledefectsinthispathwaymayconvergetoproducealargefunctionalchange。
　　TheUCIscientistsdetectedsuchaconvergenceintheIP3Rcalciumchannelinanorganellecalledtheendoplasmicreticulum。Organellesaremembranestructureswithincellswithspecializedcellularfunctions。AccordingtoGargus，diseasesoftheorganelles，suchastheER，areanemergingfieldinmedicine，withseveralwellrecognizedneurologicalailmentslinkedtotwootherones，themitochondriaandlysosomes。
　　TheIP3RcontrolsthereleaseofcalciumfromtheER。Inthebrain，calciumisusedtocommunicateinformationwithinandbetweenneurons，anditactivatesahostofothercellfunctions，includingonesregulatinglearningandmemory，neuronalexcitabilityandneurotransmitterreleaseareasknowntobedysfunctionalinASD。
　　WeproposethattheproperfunctionofthischannelanditssignalingpathwayiscriticalfornormalperformanceofneuronsandthatthissignalingpathwayrepresentsakeyhubinthepathogenesisofASD，saidParker，afellowofLondonsRoyalSocietyandUCIbehavior，whostudiescellularcalciumsignaling。
　　ToseeifIP3Rfunctionisalteredacrosstheautismspectrum，clinicalresearchersattheCenterforANeurodevelopmentalDisorderswhichisaffiliatedwiththeCenterforAutismRTranslationarecurrentlyexpandingthestudyandhavebeguntoexaminechildrenwithandwithouttypicalASDforthesamesignalingabnormalities。Thesepatientsundergocompletebehavioraldiagnostictesting，andsophisticatedEEG，sleepandbiochemicalstudiesareperformed。Thisincludesthesequencingoftheirentiregenome。Also，skincellsamplesareculturedandmadeavailabletolabbasedresearchersforfunctionalassays。
　　Intheareaofdrugdiscovery，scientistsattheCenterforAutismRTranslationcontinuetoprobetheIP3Rchannel，specificallyhowitregulatesthelevelofneuronexcitability。Thebrainsofpeoplewhohaveautismshowsignsofhyperexcitability，whichisalsoseeninepilepsy，adisorderincreasinglyfoundtobeassociatedwithASD。Cellsfromindividualswhohaveautismexhibitdepressedlevelsofcalciumsignaling，andthismightexplainwhythesepatientsexperiencethishyperexcitability。ByrestoringthereleaseofcalciumfromtheIP3R，theresearchersbelieve，theycanapplyabrakeonthisactivity。