FKTN突變擴(kuò)張型心肌病相關(guān)基因的生物信息學(xué)分析

打開(kāi)文本圖片集

中圖分類(lèi)號(hào)：R542.2 文獻(xiàn)標(biāo)識(shí)碼：A文章編號(hào)：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

擴(kuò)張型心肌?。╠ilatedcardiomyopathy，DCM）是18歲以下兒童最常見(jiàn)的心肌病，主要特點(diǎn)是左心室或雙心室擴(kuò)大并伴有心臟收縮、舒張功能障礙，1年死亡率為 年死亡率為 56 % ，是心力衰竭及心臟移植最常見(jiàn)的原因，嚴(yán)重危害患兒的身心健康[1-3]。（剩余8435字）