文档介绍：Modeling of Mutant Cystathionine β-Synthase with
Severity of its Deficiency
Shaomin Yan Guang Wu
National Engineering Research Center for Non-putational Mutation Project, DreamSciTech Consulting
Biorefinery, Guangxi Academy of Sciences 301 Bldg 12, Nanyou A-zone, Jiannan Road
98 Daling Road, Nanning Shenzhen, Guangdong, 518054, China
Guangxi, 530007, China hongguanglishibahao@
Abstract—Cystathionine β-synthase deficiency is an inborn error In general, the cardiovascular risk associated with
of metabolism that is biochemically characterized by severe hyperhomocysteinemia is significant [9]. Severe
hyperhomocysteinemia and homocystinuria. Numerous hyperhomocysteinemia (homocystinuria), due to inherited
cystathionine β-synthase mutants have so far been found in metabolic defects of Hcy metabolism, is associated with very
patients with cystathionine β-synthase deficiency. In this study, high risk of venous thromboembolism [10]. Mild-to-moderate
we use the cross-impact analysis to model the cystathionine β- increases in homocysteine occur in 5% to 10% of the
synthase mutants with their clinical endpoints, and found the population [11]. The relative risk of thrombosis is [12].
probability that the severity of cystathionine β-synthase
β
deficiency can be determined under mutations. Our results show Homocystinuria due to cystathionine -syn