Allele Copy Number and Underlying Pathology Are Associated with Subclinical Severity in Equine Type 1 Polysaccharide Storage Myopathy (PSSM1) 英文参考文献.docVIP

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Allele Copy Number and Underlying Pathology Are Associated with Subclinical Severity in Equine Type 1 Polysaccharide Storage Myopathy (PSSM1) 英文参考文献.doc

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Allele Copy Number and Underlying Pathology Are Associated with Subclinical Severity in Equine Type 1 Polysaccharide Storage Myopathy (PSSM1) 英文参考文献

AlleleCopyNumberandUnderlyingPathologyAre AssociatedwithSubclinicalSeverityinEquineType1 PolysaccharideStorageMyopathy(PSSM1) RosieJ.Naylor1,LeandaLivesey2,JohnSchumacher2,NicoleHenke2,ClaireMassey1,KennyV.Brock2, MartaFernandez-Fuente1,RichardJ.Piercy1* 1Comparative Neuromuscular Diseases Laboratory, The Royal Veterinary College, London, United Kingdom, 2Auburn University, Auburn, Alabama, United States of America Abstract Equine type 1 polysaccharide storage myopathy (PSSM1), a common glycogenosis associated with an R309H founder mutationintheglycogensynthase1gene(GYS1),sharespathologicalfeatureswithseveralhumanmyopathies.Incommon withrelatedhumandisorders,thepathogenesisremainsunclearinparticular,themarkedphenotypicvariabilitybetween affected animals. Given that affected animals accumulate glycogen and alpha-crystalline polysaccharide within their muscles, it is possible that physical disruption associated with the presence of this material could exacerbate the phenotype.TheaimofthisstudywastocomparethehistopathologicalchangesinhorseswithPSSM1,andspecifically,to investigatethehypothesisthattheseverityofunderlyingpathology,(e.g.vacuolationandinclusionformation)would(1)be higherinhomozygotesthanheterozygotesand(2)correlatewithclinicalseverity.Restingandpost-exerciseplasmacreatine kinase(CK)andaspartateaminotransferase(AST)enzymeactivitymeasurementsandmusclepathologywereassessedin matched cohorts of PSSM1 homozygotes, heterozygotes or control horses. Median (interquartile range (IR)) resting CK activitieswere364(332–764)U/Lforhomozygotes,301(222–377)U/Lforheterozygotesand260(216–320)U/Lforcontrols, andmean(+/2SD)ASTactivityforhomozygoteswere502(+/116)U/L,forheterozygotes,357(+/292)U/Landforcontrols, 311(+/264)U/Landweresignificantlydifferentbetweengroups(P=0.04andP=0.01respectively).RestingplasmaAST activitywassignificantlyassociatedwiththeseverityofsubsarcolemmalvacuolation(rho=0.816;P=0.01)andcytoplasmic inclusions(rho=0.766;P=0.01).Therewerefewertype26andmorety