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学科主题: 临床医学
题名:
Hypocretin (orexin) neuropeptide precursor gene, HCRT, polymorphisms in early-onset narcolepsy with cataplexy
作者: Dong, Xiao Song1; Ma, Su Fang2; Cao, Chun Wei2; Li, Jing1; An, Pei1; Zhao, Long1; Liu, Nan Y.1; Yan, Han1; Hu, Qing Tao2; Mignot, Emmanuel3; Strohl, Kingman P.4,5; Gao, Zhan C.1; Zeng, Changqing2; Han, Fang1
关键词: Narcolepsy-cataplexy ; Hypocretin (orexin) ; Gene ; Child ; Mutation ; SNP
刊名: SLEEP MEDICINE
发表日期: 2013-06-01
DOI: 10.1016/j.sleep.2013.01.016
卷: 14, 期:6, 页:482-487
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]: SUSCEPTIBILITY ; RECEPTORS ; MUTATIONS ; PEPTIDES ; CHILDREN ; PATHWAY ; P2RY11 ; LOCUS
英文摘要:

Background: To test if the hypocretin (orexin) neuropeptide precursor (HCRT) gene, HCRT, mutations are implicated in the development of narcolepsy with cataplexy deficiency in young children.

Methods: The entire HCRT gene and similar to 2000 bp promoter region was first sequenced in 181 patients and 153 controls, and rare polymorphisms including three nonsynonymous amino acid changes were identified. Next the 557 bp region of exon 2 harboring the three nonsynonymous changes was sequenced in an additional 298 early-onset subjects and in 148 control samples.

Results: A previously known common polymorphism (rs760282) and nine rare novel polymorphisms were identified in subjects and controls without significant differences. Two nonsynonymous exon 2 substitutions (+ 977 H54A, + 979 G55R) were detected in two subjects with early onset at 7 and 6 years, respectively, but were not found in any controls. These substitutions are not likely to vastly change peptide binding to hypocretin receptors. One additional exon 2 substitution (+ 1019, K68R) was found in two patients and one control. Additional sequencing that focused on exon 2 showed additional subjects and controls with the + 1019 K68R polymorphism and without significant differences between the subjects and the control. Segregation of two of these three nonsynonymous single nucleotide polymorphisms (SNPs) were observed from unaffected parents to offspring.

Conclusions: Sequencing of a large number of early-onset narcolepsy subjects revealed three novel nonsynonymous substitutions within the preprohypocretin protein, two of which were only found in patients with early-onset narcolepsy but are not likely to be functionally significant, especially in heterozygote subjects. (C) 2013 Elsevier B.V. All rights reserved.

语种: 英语
所属项目编号: 81070069 ; 30890031 ; GZ538
项目资助者: National Science Foundation of china ; Sino-German Center for Research Promotion
WOS记录号: WOS:000319502300003
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/63740
Appears in Collections:北京大学第二临床医学院_呼吸内科_期刊论文

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作者单位: 1.Stanford Ctr Sleep Sci & Med, Palo Alto, CA USA
2.Cleveland Louis Stokes VA Med Ctr, Cleveland, OH 44106 USA
3.Beijing Univ, Peoples Hosp, Dept Pulm Med, Beijing 100871, Peoples R China
4.Chinese Acad Sci, Beijing Inst Genom, Lab Dis Genom & Individualized Med, Beijing, Peoples R China
5.Case Western Reserve Univ, Dept Med, Div Pulm Crit Care & Sleep Med, Cleveland, OH 44106 USA

Recommended Citation:
Dong, Xiao Song,Ma, Su Fang,Cao, Chun Wei,et al. Hypocretin (orexin) neuropeptide precursor gene, HCRT, polymorphisms in early-onset narcolepsy with cataplexy[J]. SLEEP MEDICINE,2013,14(6):482-487.
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