Modeling of Mutant Cystathionine β-Synthase with Severity of its Deficiency

摘要：

Cystathionine β-synthase deficiency is an inborn error of metabolism that is biochemically characterized by severe hyperhomocysteinemia and homocystinuria. Numerous cystathionine β-synthase mutants have so far been found in patients with cystathionine β-synthase deficiency. In this study, we use the cross-impact analysis to model the cystathionine β-synthase mutants with their clinical endpoints, and found the probability that the severity of cystathionine β-synthase deficiency can be determined under mutations. Our results show that a patient with cystathionine β.synthase deficiency has about one third chance of being defined severity when a new mutation is found in human cystathionine β.synthase.

作者: Shaomin Yan Guang Wu

作者单位: National Engineering Research Center for Non-food Biorefinery, Guangxi Academy of Sciences 98 Daling Computational Mutation Project, DreamSciTech Consulting 301 Bldg 12, Nanyou A-zone, Jiannan Road Sh

会议类型: 国际会议

会议名称: The 4th International Conference on Bioinformatics and Biomedical Engineering(第四届IEEE生物信息与生物医学工程国际会议 iCBBE 2010)

会议地点: 成都

会议语种:英文

页码: 1-4

在线出版日期: 2010-06-18（万方平台首次上网日期，不代表论文的发表时间）