Expression of Glycogen Phosphorylase Isoforms in Cultured Muscle from Patients with McArdles Disease Carrying the p.R771PfsX33 PYGM Mutation 英文参考文献.docVIP

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2017-05-11 发布于上海
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Expression of Glycogen Phosphorylase Isoforms in Cultured Muscle from Patients with McArdles Disease Carrying the p.R771PfsX33 PYGM Mutation 英文参考文献.doc

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Expression of Glycogen Phosphorylase Isoforms in Cultured Muscle from Patients with McArdles Disease Carrying the p.R771PfsX33 PYGM Mutation 英文参考文献

ExpressionofGlycogenPhosphorylaseIsoformsin CulturedMusclefromPatientswithMcArdle’sDisease Carryingthep.R771PfsX33PYGMMutation GiselaNogales-Gadea1,5.,EmmaMormeneo2,6.,Ine′sGarc?′a-Consuegra3,5,JuanC.Rubio3,5 ,Anna Orozco2,6,JoaquinArenas3,MiguelA.Mart?′n3,5,AlejandroLucia4,AnnaM.Go′mez-Foix2,6 ,Ramon Mart?′1,5*,AntoniL.Andreu1,5 1Departament de Patologia Mitocondrial i Neuromuscular, Institut de Recerca, Hospital Universitari Vall d’Hebron, Barcelona, Spain, 2Departament de Bioqu?′mica i Biolog?′a Molecular, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain, 3Centro de Investigacio′n, Hospital Universitario 12 de Octubre, Madrid, Spain, 4UniversidadEuropeadeMadrid,Madrid,Spain,5SpanishNetworkforResearchinRareDiseases(CIBERER),InstitutodeSaludCarlosIII,Madrid,Spain,6Diabetesand AssociatedMetabolicDisorders(CIBERDEM),InstitutodeSaludCarlosIII,Madrid,Spain Abstract Background: Mutations in the PYGM gene encoding skeletal muscle glycogen phosphorylase (GP) cause a metabolic disorderknownasMcArdle’sdisease.PreviousstudiesinmusclebiopsiesandculturedmusclecellsfromMcArdlepatients have shown that PYGM mutations abolish GP activity in skeletal muscle, but that the enzyme activity reappears when musclecellsareinculture.TheidentificationoftheGPisoenzymethataccountsforthisactivityremainscontroversial. Methodology/Principal Findings: In this study we present two related patients harbouring a novel PYGM mutation, p.R771PfsX33.Inthepatients’skeletalmusclebiopsies,PYGMmRNAlevelswere,60%lowerthanthoseobservedintwo matched healthy controls; biochemical analysis of a patient muscle biopsy resulted in undetectable GP protein and GP activity. A strong reduction of the PYGM mRNA was observed in cultured muscle cells from patients and controls, as comparedtothelevelsobservedinmuscletissue.Inculturedcells,PYGMmRNAlevelswerenegligibleregardlessofthe differentiationstage.Aftera12dayperiodofdifferentiationsimilarexpressionofthebrainandliverisoformswereobserved at the mRNA lev