FKTN突变扩张型心肌病相关基因的生物信息学分析

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中图分类号：R542.2 文献标识码：A文章编号：1006-1959（2025）09-0008-06

DOI：10.3969/j.issn.1006-1959.2025.09.002

Abstract：ObjectiveToinvestigatethepathogenicmechanismofFKTNgene mutationindilatedcardiomyopathy.MethodsTeGSE13828gene expressionproflrelatedtFKasdwladedfroteGenExpressonObsdatabaseandedierentialexpresionofKgene mutationmyocadaltiendalardalisueasaldTapRpacgessedtisplatfretiallexpd intheFKTgeneutantmyocardialtissendfurtereichmentaalysisofthdiferentillyexpressedgneswasperfodtfindte enrchentpathwaysProteninteractionetwokaalysisassedtofindtheeypathayproteisinthKeneutantmyocadaltisuead tofiditspathogenicmechanismandtherapeutictargetsResultsoifoaticsaalysisofFKTgneshowedtatcomparedwithtehealty controlgroup636ieetialypresentiutatioofcglatedde dow-regulatedAogtegatdGOalisdtatitasainlyentratedinatospodetaceai colgenfiberproiferationKEGGpathwayanalysisfoundtatteyweremainlyeicedinteinteractionofyokineytokinepto interleuki-igaingathactoiltainaligtaaligtad matrixeceteacteactiokaldatdC; regulatedgeesaldatleraediaspadalactdpmc microtubuleandproteinglycosylatioKEGGpathwayaalysisfoundthattheyweremainlycocentratedinmyocardialontractioilated cardiomyopathyandcalciumsignalingpathway.ProteininteractionnetworkanalysisfoundthatthekeynodegeneswereAsbl5andEfcab2. ConclusionThepathogenesisofmicewithFKTNmutation-relatedDCMmayberelatedtointracardiaccalciumhomeostasis，cardioyocyte inflammation，microtubule abnormalities，and extracellularmatrix hyperplasia.

Keywords：Dilatedcardiomyopathy;Genetictesting;FKTN;Bioinformatics

扩张型心肌病（dilatedcardiomyopathy，DCM）是18岁以下儿童最常见的心肌病，主要特点是左心室或双心室扩大并伴有心脏收缩、舒张功能障碍，1年死亡率为 年死亡率为 56 % ，是心力衰竭及心脏移植最常见的原因，严重危害患儿的身心健康[1-3]。（剩余8435字）