Quantitative Proteomic Analysis of Niemann-Pick Disease, Type C1 Cerebellum Identifies Protein Biomarkers and Provides Pathological Insight 英文参考文献.docVIP

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Quantitative Proteomic Analysis of Niemann-Pick Disease, Type C1 Cerebellum Identifies Protein Biomarkers and Provides Pathological Insight 英文参考文献.doc

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Quantitative Proteomic Analysis of Niemann-Pick Disease, Type C1 Cerebellum Identifies Protein Biomarkers and Provides Pathological Insight 英文参考文献

QuantitativeProteomicAnalysisofNiemann-Pick Disease,TypeC1CerebellumIdentifiesProtein BiomarkersandProvidesPathologicalInsight StephanieM.Cologna1,Xiao-ShengJiang1¤,PeterS.Backlund2,CelineV.M.Cluzeau1,MichelleK.Dail1, NicoleM.Yanjanin1,StephanSiebel1,CynthiaL.Toth1,Hyun-sikJun1,ChristopherA.Wassif1, AlfredL.Yergey2,ForbesD.Porter1* 1PrograminDevelopmentalEndocrinologyandGenetics,NationalInstituteofChildHealthandHumanDevelopment,NationalInstitutesofHealth,DepartmentofHealth andHumanServices,Bethesda,Maryland,UnitedStatesofAmerica,2BiomedicalMassSpectrometryFacility,NationalInstituteofChildHealthandHumanDevelopment, NationalInstitutesofHealth,DepartmentofHealthandHumanServices,Bethesda,Maryland,UnitedStatesofAmerica Abstract Niemann-Pick disease, type C1 (NPC1) is a fatal, neurodegenerative disorder for which there is no definitive therapy. In NPC1,apathologicalcascadeincludingneuroinflammation,oxidativestressandneuronalapoptosislikelycontributetothe clinical phenotype. While the genetic cause of NPC1 is known, we sought to gain a further understanding into the pathophysiologybyidentifyingdifferentiallyexpressedproteinsinNpc1mutantmousecerebella.Usingtwo-dimensional gel electrophoresis and mass spectrometry, 77 differentially expressed proteins were identified in Npc1 mutant mice cerebellacomparedtocontrols.Theseincludeproteinsinvolvedinglucosemetabolism,detoxification/oxidativestressand Alzheimerdisease-relatedproteins.Furthermore,membersofthefattyacidbindingproteinfamily,includingFABP3,FABP5 and FABP7, were found to have altered expression in the Npc1 mutant cerebellum relative to control. Translating our findings from the murine model to patients, we confirm altered expression of glutathione s-transferase a , superoxide dismutase,andFABP3incerebrospinalfluidofNPC1patientsrelativetopediatriccontrols.AsubsetofNPC1patientson miglustat,aglycosphingolipidsynthesisinhibitor,showedsignificantlydecreasedlevelsofFABP3comparedtopatientsnot onmiglustattherapy.Thisstudyprovi