中华眼科杂志
中華眼科雜誌
중화안과잡지
Chinese Journal of Ophthalmology
2009年
8期
699-702
,共4页
申屠形超%汤霞靖%叶盼盼%金冲飞%王玮%姚克
申屠形超%湯霞靖%葉盼盼%金遲飛%王瑋%姚剋
신도형초%탕하정%협반반%금충비%왕위%요극
晶体异位%蛋白结构%二级%微丝蛋白质类%突变
晶體異位%蛋白結構%二級%微絲蛋白質類%突變
정체이위%단백결구%이급%미사단백질류%돌변
Ectopia lentis%Protein structure%secondary%Micrufilament proteins%Mutation
目的 运用计算机建模分析中国马方综合征单纯晶状体脱位患者突变型微纤维蛋白-Ⅰ(FBN1)物理结构的改变,以阐明其在晶状体脱位发病机制中的作用.方法 对照实验研究.运用SWISS-MODEL软件预测、SWISS-Pdb浏览器观察与分析野生型和R545C、R1530C突变型微纤维蛋白-Ⅰ的蛋白构型.结果 与野生型微纤维蛋白-Ⅰ比较,突变型微纤维蛋白-Ⅰ具有显著的二维结构的改变.R545C突变型微纤维蛋白-Ⅰ造成α螺旋结构缺失、氢键距离缩短、蛋白表面水溶性改变和分子负电荷势能下降.R1530C突变型微纤维蛋白-Ⅰ造成氢键缺失、蛋白表面水溶性改变和分子负电荷势能上升.结论 突变型微纤维蛋白-Ⅰ基因显著改变了该蛋白的二维结构,进一步支持了微纤维蛋白-Ⅰ在马方综合征晶状体脱位发病机制中具有一定作用的理论.
目的 運用計算機建模分析中國馬方綜閤徵單純晶狀體脫位患者突變型微纖維蛋白-Ⅰ(FBN1)物理結構的改變,以闡明其在晶狀體脫位髮病機製中的作用.方法 對照實驗研究.運用SWISS-MODEL軟件預測、SWISS-Pdb瀏覽器觀察與分析野生型和R545C、R1530C突變型微纖維蛋白-Ⅰ的蛋白構型.結果 與野生型微纖維蛋白-Ⅰ比較,突變型微纖維蛋白-Ⅰ具有顯著的二維結構的改變.R545C突變型微纖維蛋白-Ⅰ造成α螺鏇結構缺失、氫鍵距離縮短、蛋白錶麵水溶性改變和分子負電荷勢能下降.R1530C突變型微纖維蛋白-Ⅰ造成氫鍵缺失、蛋白錶麵水溶性改變和分子負電荷勢能上升.結論 突變型微纖維蛋白-Ⅰ基因顯著改變瞭該蛋白的二維結構,進一步支持瞭微纖維蛋白-Ⅰ在馬方綜閤徵晶狀體脫位髮病機製中具有一定作用的理論.
목적 운용계산궤건모분석중국마방종합정단순정상체탈위환자돌변형미섬유단백-Ⅰ(FBN1)물리결구적개변,이천명기재정상체탈위발병궤제중적작용.방법 대조실험연구.운용SWISS-MODEL연건예측、SWISS-Pdb류람기관찰여분석야생형화R545C、R1530C돌변형미섬유단백-Ⅰ적단백구형.결과 여야생형미섬유단백-Ⅰ비교,돌변형미섬유단백-Ⅰ구유현저적이유결구적개변.R545C돌변형미섬유단백-Ⅰ조성α라선결구결실、경건거리축단、단백표면수용성개변화분자부전하세능하강.R1530C돌변형미섬유단백-Ⅰ조성경건결실、단백표면수용성개변화분자부전하세능상승.결론 돌변형미섬유단백-Ⅰ기인현저개변료해단백적이유결구,진일보지지료미섬유단백-Ⅰ재마방종합정정상체탈위발병궤제중구유일정작용적이론.
Objective Fibrillin-1,the major constituent of extracellular microfibrils,plays an important role in the molecular pathogenesis of Marfan syndrome (MFS,#154700).The aim of this study was to analyze protein models of the mutation of the fibrillin-1(FBN1) gene on Arg545Cys and Arg1530Cys which have been reported to cause predominant ectopia lentis in Chinese patients. Methods We constructed and analyzed the protein models of the mutant FBN1 gene on Arg545Cys and Arg1530Cys.Fibrillin-1 protein structures were predicted by SWISS-MODEL.Models were viewed in Swiss-Pdb Viewer.Results Computer construction and analysis of protein models of the mutant FBN1 gene revealed that the mutant Arg545Cys FBN1 protein had various changes on protein's secondary structure with an absence of a helix, decreased hydrogen bond distance,different protein surface solvent-aecessibility and decreased negative electrostatic potential.The mutant Arg1530Cys FBN1 showed lost of hydrogen bonds,different protein surface solvent-accessibility and increased negative electrostatic potential.Conclusions Protein models of the mutant FBN1 gene shows significant alterations on the protein's secondary structure based on computer construction and analysis technology.This study provides further evidence for the important effect of the mutant FBN1 on the pathogenesis of human ectopia lentis.
