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学科主题: 基础医学
题名:
Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1
作者: Fu, Rao1,2; Yanjanin, Nicole M.1; Elrick, Matthew J.3; Ware, Christopher3; Lieberman, Andrew P.3; Porter, Forbes D.1
关键词: neurodegenerative disease ; lysosomal storage disease ; apolipoprotein E ; tau
刊名: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
发表日期: 2012-11-01
DOI: 10.1002/ajmg.a.35395
卷: 158A, 期:11, 页:2775-2780
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: ALZHEIMERS-DISEASE ; NEUROFIBRILLARY TANGLES ; NEURITIC PLAQUES ; GENE ; APOE ; ALLELE ; ASSOCIATION ; METABOLISM ; NEURONS ; PROTEIN
英文摘要:

NiemannPick disease, type C1 (NPC1) is a lipid storage disorder that results in progressive neurological impairment. The NPC1 phenotype is extremely variable and at the individual level is likely influenced by other genetic traits. In addition to residual function of NPC1 protein, we hypothesize that modifier genes, as frequently observed with other autosomal recessive diseases, influence the NPC phenotype. The NPC1 phenotype includes progressive dementia, and the NPC pathology has some overlap with the pathology of Alzheimer disease (AD). Thus, we examined apolipoprotein E (ApoE) and microtubule-associated protein tau (MAPT) polymorphisms in a cohort of 15 NPC1 patients with well characterized longitudinal disease progression. Although we did not find any correlations between disease severity and tau polymorphisms, we found significant associations between ApoE polymorphisms and phenotypic severity. Specifically, ApoE4 and ApoE2 alleles were associated, respectively, with increased and decreased disease severity in this cohort of NPC1 patients. These data support the hypothesis that ApoE may play a role in modulating NPC1 neuropathology. (c) 2012 Wiley Periodicals, Inc.

语种: 英语
所属项目编号: NS063967 ; NS065662
项目资助者: NIH ; NICHD ; Office of Rare Disease ; Ara Parseghian Medical Research Foundation ; Dana Angel&prime ; s Research Trust
WOS记录号: WOS:000310071700022
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/68002
Appears in Collections:基础医学院_期刊论文

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作者单位: 1.Peking Univ, Sch Basic Med Sci, Beijing 100871, Peoples R China
2.NICHD, Sect Mol Dysmorphol, Program Dev Endocrinol & Genet, NIH,DHHS, Bethesda, MD 20892 USA
3.Univ Michigan, Sch Med, Dept Pathol, Ann Arbor, MI USA

Recommended Citation:
Fu, Rao,Yanjanin, Nicole M.,Elrick, Matthew J.,et al. Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A,2012,158A(11):2775-2780.
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