本文選題：C型尼曼-皮克病 + NPC2�。� 參考：《杭州師范大學》2015年碩士論文

【摘要】：C型尼曼-皮克病(Niemann-Pick type C,NPC)是一組常染色體隱性遺傳病。目前認為,NPC是一種獨特的細胞內、外源性膽固醇和多種脂質轉運障礙所致的變性病。5%的NPC病例源于結合膽固醇的可溶性溶酶體蛋白NPC2基因突變。PARK9基因是常染色體隱性遺傳青壯年帕金森綜合征(Kufor-Rakeb綜合征,簡稱KBS綜合征)的致病基因,又稱ATP13A2基因。本課題組前期研究數(shù)據(jù)表明,NPC2與PARK9或許存在互作的關系。編碼的PARK9蛋白可能參與了調控細胞內物質轉運這項活動。本課題研究主要采用計算機模擬、體外重組的技術,體外表達NPC2蛋白和PARK9基因片段,且成功獲得相應蛋白;銀染與GST pull-down方法,表明NPC2和PARK9存在著相互作用的關系;同時用Dot blot實驗初步研究了二者間相互作用的量子化關系,即二者濃度接近1:1時,NPC2與PARK9 F1體積在1:4-1:1之間結合較好。該課題通過對NPC2與PARK9間的互作研究,以期揭示PARK9蛋白可通過與NPC2的結合參與調控溶酶體內膽固醇轉運。
[Abstract]:Niemann-Pick type is a group of autosomal recessive diseases. At present, it is believed that the NPC is a unique kind of intracellular, 5% of NPC cases caused by exogenous cholesterol and various lipid transport disorders were caused by mutation of soluble lysosomal protein NPC2 gene. PARK9 gene was autosomal recessive young and adult Parkinson's syndrome and Kufor-Rakeb syndrome. The pathogenicity gene of KBS syndrome, also known as ATP 13A2 gene. The previous study data suggested that there may be interaction between NPC2 and PARK9. The encoded PARK 9 protein may be involved in regulating the intracellular transport of substances. In this study, NPC2 and PARK9 gene fragments were expressed by computer simulation and recombinant in vitro, and the corresponding proteins were obtained successfully, and the interaction between NPC2 and PARK9 was demonstrated by silver staining and GST pull-down method. At the same time, the quantization relationship of the interaction between them is studied by Dot blot experiment. The results show that the volume of NPC2 and PARK9F1 is better combined with the volume of 1: 4-1: 1 when the concentration of NPC2 and PARK9F1 is close to 1:1. Through the study of the interaction between NPC2 and PARK9, we hope that PARK9 protein can regulate cholesterol transport by binding with NPC2.
【學位授予單位】：杭州師范大學
【學位級別】：碩士
【學位授予年份】：2015
【分類號】：R596.1

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相關期刊論文 前1條

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本文編號：2041471