肌萎缩侧索硬化症的致病基因

肌萎缩侧索硬化症起因于运动大脑皮质与脊髓的某些神经死亡。这些神经控制着随意肌（voluntarymuscles）以及身体行动的能力。当这些神经死亡时，人可能会变的虚弱甚至瘫痪。肌萎缩侧索硬化症每年造成10,000名美国人死亡，据估计发病率为2,000分之一。前有几种药物可以用来减轻ALS的症状，但是ALS是一种无法痊愈的疾病，目前病因未明。美国约翰霍浦金斯大学的科学家，第一次试着从基因组来寻找肌萎缩侧索硬化症的致病基因。研究人员表示，他们在276名无血缘关系的肌萎缩侧索硬化症患者中，辨认出34个新的基因变异。这34个所谓的单一核苷酸多型性，这些基因有助于预测哪些人，可能发生这种非遗传性的致命性神经退化性疾病。虽然研究人员目前还未找出负责肌萎缩侧索硬化症的确切基因，但是这项结果将可以缩小研究的范围。这项研究结果发表于LancetNeurology网络版中。（资料来源:Bio.com）部分英文原文：TheLancetNeurologyVolume6,Issue4,April2007,Pages322-328Genome-widegenotypinginamyotrophiclateralsclerosisandneurologicallynormalcontrols:firststageanalysisandpublicreleaseofdataJenniferCSchymickBSa,m,SonjaWScholzMDb,g,Hon-ChungFungMDa,e,AngelaBrittonMSb,SampathArepalliMSa,JRaphaelGibbsBSc,f,FedericaLombardoPhDh,MarMatarinPhDb,DaliaKasperaviciutePhDf,DenaGHernandezMScb,CynthiaCrewsa,LucieBruijnPhDi,JeffreyRothsteinMDj,GabrieleMoraMDk,GabriellaRestagnoMDh,AdrianoChiòMDl,AndrewSingletonPhDb,JohnHardyPhDaandBryanJTraynorMDd,jaLaboratoryofNeurogenetics,NationalInstituteonAging,NationalInstitutesofHealth,Bethesda,MD,USAbMolecularGenetics,NationalInstituteonAging,NationalInstitutesofHealth,Bethesda,MD,USAcComputationalBiologyCore,NationalInstituteonAging,NationalInstitutesofHealth,Bethesda,MD,USAdSectiononDevelopmentalGeneticEpidemiology,NationalInstituteofMentalHealth,NationalInstitutesofHealth,Bethesda,MD,USAeInstituteofNeurologicalStudies,UniversityCollegeLondon,London,UKfDepartmentofNeurodegenerativeDisease,InstituteofNeurology,QueenSquare,London,UKgDepartmentofMolecularNeuroscience,InstituteofNeurology,QueenSquare,London,UKhMolecularGeneticsUnit,ASOOIRM-SAnna,Turin,ItalyiTheALSAssociation,FL,USAjDepartmentofNeurology,JohnsHopkinsUniversity,MD,USAkFondazioneSalvatoreMaugeri,Pavia,ItalylDepartmentofNeuroscience,UniversityofTurin,Turin,ItalymDepartmentofPhysiology,AnatomyandGenetics,UniversityofOxford,Oxford,UKAvailableonline20February2007.SummaryBackgroundThecauseofsporadicALSALS.ALSMethodsWeundertookagenome-wideassociationstudyusingpubliclyavailablesamplesfrom276patientswithsporadicALSFindingsMorethan300milliongenotypeswereproducedin547participants.TheserawgenotypedataarefreelyavailableontheinternetandrepresentthefirstpubliclyaccessibleSNPdataforALSInterpretationWegeneratedpubliclyavailablegenotypedataforsporadicALSCorrespondenceto:BryanJTraynor,NationalInstituteofMentalHealth,NationalInstitutesofHealth,Bethesda,MD,USA相关报道:肌萎缩侧索硬化症病因学研究进展日发现肌萎缩性侧索硬化症致病机理HumanGeneTherapy：将人类神经干细胞注入患肌萎缩侧索硬化症的...肌萎缩侧索硬化症（ALS）的鉴别诊断肌萎缩侧索硬化症病因学研究进展PNAS：新发现肌萎缩侧索硬化症病理特征肌萎缩性侧索硬化症家族性肌萎缩性侧索硬化症萎缩性侧索硬化症疫苗研究获新进展Nature：核糖核酸（RNA）干扰治疗肌萎缩侧索症的新希望

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