Identification and functional analysis of novel mutations in the SOD1 gene in Chinese patients with amyotrophic lateral sclerosis
Identification and functional analysis of novel mutations in the SOD1 gene in Chinese patients with amyotrophic lateral sclerosis
复制标题
中国肌萎缩侧索硬化症患者SOD1基因新突变的鉴定及功能分析
DOI：
10.1080/21678421.2019.1582668
复制
发表时间：
2019-03-18
影响因子：
2.8
通讯作者：
Wu, Zhi-Ying
中科院分区：
文献类型：
--
作者：
Lin, Hui-Xia;Tao, Qing-Qing;Wu, Zhi-Ying
摘要肌萎缩性侧索硬化症（ALS）是一种以中枢神经系统（CNS）运动神经元选择性受累为特征的破坏性神经退行性疾病。中国人群中最常见的ALS致病基因为Cu/Zn超氧化物歧化酶1 （SOD1）基因，占家族性ALS （FALS）病例的20-42.9%，占散发性ALS （SALS）病例的1 - 2%。在这项研究中，我们在四个ALS家系中发现了三种新的SOD1突变，Gly17Cys， Pro75Ser和His121Gln。进行了功能分析，结果表明，这三种突变都可能导致错误折叠蛋白质的形成。此外，还描述了这些患者的基因型-表型相关性。我们的研究有助于表征SOD1突变的ALS的基因型和表型。
Abstract Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by selective involvement of motor neurons in the central nervous system (CNS). The most common causative gene of ALS in the Chinese population is the Cu/Zn superoxide dismutase 1 (SOD1) gene, which accounts for 20–42.9% of familial ALS (FALS) and 1–2% of sporadic ALS (SALS) cases. In this study, we identify three novel SOD1 mutations, Gly17Cys, Pro75Ser, and His121Gln, in four ALS pedigrees. A functional analysis was performed, and the results showed that all three mutations could lead to the formation of misfolded proteins. In addition, genotype–phenotype correlations in these patients are also described. Our study helps to characterize the genotype and phenotype of ALS with SOD1 mutations.