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学科主题: 临床医学
题名:
Six SQSTM1 mutations in a Chinese amyotrophic lateral sclerosis cohort
作者: 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
发表日期: 2015-08-27
DOI: 10.3109/21678421.2015.1009466
卷: 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
项目资助者: National Natural Sciences Foundation of China
WOS记录号: WOS:000364477400014
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/60586
Appears in Collections:北京大学第三临床医学院_神经内科_期刊论文

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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

Recommended Citation:
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.
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