Allele Specific Expression of the Transthyretin Gene in Swedish Patients with Hereditary Transthyretin Amyloidosis (ATTR V30M) Is Similar between the Two Alleles 英文参考文献.docVIP

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Allele Specific Expression of the Transthyretin Gene in Swedish Patients with Hereditary Transthyretin Amyloidosis (ATTR V30M) Is Similar between the Two Alleles 英文参考文献.doc

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Allele Specific Expression of the Transthyretin Gene in Swedish Patients with Hereditary Transthyretin Amyloidosis (ATTR V30M) Is Similar between the Two Alleles 英文参考文献

AlleleSpecificExpressionoftheTransthyretinGenein SwedishPatientswithHereditaryTransthyretin Amyloidosis(ATTRV30M)IsSimilarbetweentheTwo Alleles NinaNorgren1*,UrbanHellman1,BoGo¨ranEriczon2,MalinOlsson1,OleB.Suhr1 1DepartmentofPublicHealthandClinicalMedicine,Umea? University,Umea?, Sweden,2DivisionofTransplantationSurgery,KarolinskaInstitutet,Stockholm,Sweden Abstract Background: Hereditary transthyretin (TTR) amyloidosis (ATTR) is an autosomal dominant disease characterized by extracellulardepositsofamyloidfibrilscomposedofmisfoldedTTR.Thedifferencesinpenetranceandageatonsetarevast, bothbetweenandwithinpopulations,withagenerallylateonsetforSwedishcarriers.InarecentstudytheentireTTRgene includingthe39UTRinSwedish,FrenchandJapaneseATTRpatientswassequenced.ThestudydisclosedaSNPintheV30M TTR 39 UTR of the Swedish ATTR population that was not present in either the French or the Japanese populations (rC.T).ThisSNPcouldcreateanewbindingsiteformiRNA,whichwouldincreasedegradationofthemutated TTR’smRNAthusdecreasevariantTTRformationandtherebydelaytheonsetofthedisease.Theaimofthepresentstudy wastodisclosedifferencesinallelespecificTTRexpressionamongSwedishV30Mpatients,andtoseeifselectedmiRNAhad anyeffectupontheexpression. Methodology/Principal Findings: Allele-specific expression was measured on nine liver biopsies from Swedish ATTR patients using SNaPshot Multiplex assay. Luciferase activity was measured on cell lines transfected with constructs containingtheTTR39UTR.Allele-specificexpressionmeasuredonliverbiopsiesfromSwedishATTRpatientsshowedno difference in expression between the two alleles. Neither was there any difference in expression between cell lines co- transfectedwithtwoconstructswithorwithouttheTTR39UTRSNPregardlessofaddedmiRNA. Conclusions/Significance: The SNP found in the 39 UTR of the TTR gene has no effect on degrading the variant allele’s expressionandthushasnoimpactonthediminishedpenetranceofthetraitintheSwedishpopulation.However,the39 UTR SNP