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Six SQSTM1 mutations in a Chinese amyotrophic lateral sclerosis cohort
Yang, Yi1; Tang, Lu1; Zhang, Nan1; Pan, Lei2,3,4; Hadano, Shinji2,3,5; Fan, Dongsheng1
关键词Amyotrophic lateral sclerosis SQSTM1 gene mutation clinical features
刊名Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
2015-08-27
DOI10.3109/21678421.2015.1009466
16期:5-6页:378-384
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology
研究领域[WOS]Neurosciences & Neurology
关键词[WOS]FRONTOTEMPORAL LOBAR DEGENERATION ; PREDICTS SURVIVAL-TIME ; HEXANUCLEOTIDE REPEAT ; SUPEROXIDE-DISMUTASE ; SELECTIVE AUTOPHAGY ; PAGETS-DISEASE ; FAMILIAL ALS ; P62 ; PROTEIN ; GENE
英文摘要

The purpose of this study was to identify SQSTM1 gene mutations, estimate survival based on the progression rate of the revised amyotrophic lateral sclerosis functional rating scale (ALSFRS-R) score (FS), and characterize the relationships between SQSTM1 mutations and clinical phenotypes in Chinese ALS patients. We sequenced the SQSTM1 gene in 35 familial ALS patients, 436 sporadic ALS patients, and 384 healthy controls. SQSTM1 gene mutations were screened with PCR and direct sequencing; the correlations between genotype and phenotype and the progressive ALSFRS-R ratio were analyzed. Results revealed six heterozygous missense mutations in 471 ALS patients: c.241 G> A (p.E81K), c.717 C> A (p.N239K), c.889 G> A (p.G297S), c.1116 G> C (p.E372D), c.1162 C> T (p.P388S) and c.1175 C> T (p.P392 L). The gender ratio was 1:1, and the limb was the site of disease onset in mutation-positive patients. Notably, the FS analysis revealed that the risk of death or tracheostomy was significantly increased in SQSTM1 mutation carriers (p < 0.05). In conclusion, E81K, N239K, G297S, E372D, P388S and P392 L were detected in the PB1, TRAF6, PEST and UBA domains, which are important to p62 function and prone to ALS. The incidence of ALS caused by the SQSTM1 mutation has increased from 30 to 35 worldwide.

语种英语
WOS记录号WOS:000364477400014
资助机构National Natural Sciences Foundation of China
引用统计
被引频次:9[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/60586
专题北京大学第三临床医学院_神经内科
作者单位1.Tokai Univ, Inst Med Sci, Isehara, Kanagawa, Japan
2.Waseda Univ, Biomed Gerontol Lab, Sch Human Sci, Tokyo, Japan
3.Peking Univ, Hosp 3, Dept Neurol, Beijing 100191, Peoples R China
4.Tokai Univ, Sch Med, Dept Mol Life Sci, Isehara, Kanagawa 25911, Japan
5.Tokai Univ, Grad Sch Med, Res Ctr Brain & Nervous Dis, Isehara, Kanagawa, Japan
推荐引用方式
GB/T 7714
Yang, Yi,Tang, Lu,Zhang, Nan,et al. Six SQSTM1 mutations in a Chinese amyotrophic lateral sclerosis cohort[J]. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration,2015,16(5-6):378-384.
APA Yang, Yi,Tang, Lu,Zhang, Nan,Pan, Lei,Hadano, Shinji,&Fan, Dongsheng.(2015).Six SQSTM1 mutations in a Chinese amyotrophic lateral sclerosis cohort.Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration,16(5-6),378-384.
MLA Yang, Yi,et al."Six SQSTM1 mutations in a Chinese amyotrophic lateral sclerosis cohort".Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 16.5-6(2015):378-384.
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