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*王刚1,2祝延2孔德虎2陈生弟1(1,200025;2,230032)离子通道(ionchannels)在细胞分子水平对维持机体的正常生理功能至关重要当离子通道由于某些先天性的或后天获得性的原因导致其结构和(或)功能发生改变时,其所承载的功能必将发生异常,从而可能导致离子通道病(channelopathy)的发生作为近年新兴的一门交叉型前沿学科,目前离子通道病的研究模型和方法日渐完善,对于离子通道病的研究不仅为这类疾病的早期诊断和治疗提供了基础,并且将有助于对某些离子通道功能的进一步认识和了解离子通道;离子通道病;突变;抗体Q73;R338,(),(channelopathy)[1],(ionchannels)()(),,(),,[1]()Fontaine(1990)(hyperkalemicperiodicparalysis,Hypp),,(Science),10,,,,,,,,[2,3](),,,,,,(cysticfibrosis,CF)CF,,,CFCFTR(cysticfibrosistransmembraneregulator)5083CFTRHCO-3Cl-,CFTR,,,(Pilewski.1999,Sheppard.1999),CF,CFTR*(2004kj272zd)2512004353,,,CF,(),Na+K+Ca2+Cl-()/(Lawson.2000,Ruggieri.2002),,,,,()()(dysregulatedexpression)/,,,,(Channelopathy)[4]()(geneticchannelopathy)(acquiredchannelopathy),,;(voltagegatedchannelopathy)(ligandgatedchannelopathy),(receptordiseases)[4]::(BFNC)(QT)(Bartter)()[1],,,,,,,,,,:(1):(VGKC),(cellcycleregulation)(cellvolume)(membranepotential),(Lang.2000,Yu.2001),B(Bcellleukemia)ATPP2X7(Adinolfi.2002)L(Wang.2000),;(2):(Alzheimersdiseases,AD)(Parkinsonsdisease,PD)AD(A)(APP)1,2(PS1,2),,AD,(KCOs)AD[5]PDATP(KATP)(Liss.2001)(Kir)(Pruss.2003),(invivo)(invitro)(),2522004353,,/(knockout/knockin),(transgeneticanimals);(microinjections)[(xenopusoocyte)(HEK)(CHO)],,mRNA,,(wildtype),/;(PC12),[6~9](),,,:(1),,,,RTPCRNorthernblot,Westernblot;(2),,,;(3),MRI(fMRI)PETSPET,[6~9](),10,,,:(1):,,,,,,,,,,RNARNA;(2):,,,,,,(),,:(1):??(2):,,??,?(),:(1):,;(2):2532004353,,,,;(3):,,,,;(4),,,[3,10],,,,,,(,)1HattaS,SakamotoJ,HorioY.Ionchannelsanddiseases.MedElectronMicrosc,2002,35117~126.2PtacekLJ.Ionchanneldiseases:episodicdisordersofthenervoussystem.SeminNeurol,1999,19363~369.3DaviesNP,HannaMG.Neurologicalchannelopathies:diagnosisandtherapyinthenewmillennium.AnnMed,1999,31406~420.4.channelopathy.,2003,3470.5..,2002,23230~232.6BiervertC,SchroederBC,KubischC,etal.Apotassiumchannelmutationinneonatalhumanepilepsy.Science,1998,279403~406.7HartIK.Acquiredneuromyotonia:anewautoantibodymediatedneuronalpotassiumchannelopathy.AmJMedSci,2000,319209~216.8NagadoT,ArimuraK,SonodaY,etal.Potassiumcurrentsuppressioninpatientswithperipheralnervehyperexcitability.Brain,1999,1222057~2066.9WeberF,RudelR,AulkemeyerP,etal.AntiGM1antibodiescanblockneuronalvoltagegatedsodiumchannels.MuscleNerve,2000,231414~1420.10HolmesTC.Ionchanneldirectedtherapiesinautonomicneurons:aviewfromthebench.ClinAutonRes,2002,1259~65.,26,BialekBotsteinMayNowakSigmundFriedman,Mackenzie,,,,2,(),(Science,2004,303781~782)(朱晓松邵黎)2542004353