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目的探讨肌萎缩性脊髓侧索硬化症(ALS)发病过程中超氧化物歧化酶1(SOD1)氨基酸突变对其聚集的影响。方法收集全部已知SOD1氨基酸错义突变106个,运用AGGRESCAN、PASTA、TANGO3种生物信息学方法和工具,预测错义突变对蛋白质聚集倾向的作用。结果3种生物信息学工具预测结果基本一致,共有39个对蛋白质聚集有促进作用的突变,占所有突变的37%。结论氨基酸突变导致蛋白质聚集并非是导致ALS发病的唯一途径,ALS发病机制是一个多因素的复杂过程。
Objective To investigate the effect of amino acid mutation of superoxide dismutase 1 (SOD1) on the aggregation of amyotrophic lateral sclerosis (ALS). Methods A total of 106 amino acid missense mutations of SOD1 were collected. The bioinformatics methods and tools of AGGRESCAN, PASTA and TANGO were used to predict the effect of missense mutation on protein aggregation. Results The results of the three bioinformatics tools were basically the same. A total of 39 mutations contributing to protein aggregation were found, accounting for 37% of all mutations. Conclusion Amino acid mutations lead to protein aggregation is not the only way leading to the pathogenesis of ALS, ALS pathogenesis is a complex multi-factor process.