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学科主题: 临床医学
题名:
Functional Studies of MLC1 Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts
作者: Xie, Han1; Wang, Jingmin1; Dhaunchak, Ajit Singh2; Shang, Jing1,3; Kou, Liping1,3; Guo, Mangmang1; Wu, Ye1; Gu, Qiang1; Colman, David2; Wu, Xiru1; Jiang, Yuwu1
刊名: PLOS ONE
发表日期: 2012-03-05
DOI: 10.1371/journal.pone.0033087
卷: 7, 期:3
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Multidisciplinary Sciences
研究领域[WOS]: Science & Technology - Other Topics
关键词[WOS]: DER-KNAAP-DISEASE ; DYSTROPHIN-GLYCOPROTEIN COMPLEX ; GENETIC-HETEROGENEITY ; CELL MODEL ; PROTEIN ; SCHIZOPHRENIA ; ASTROCYTES ; CAVEOLINS ; SYSTEMS
英文摘要:

Megalencephalic leukoencephalopathy with subcortical cysts (MLC, MIM# 604004) is an autosomal recessive inherited disease mostly resulting from MLC1 mutations. In this study, we finished the functional analysis of MLC1 mutations identified recently in Chinese patients, including five newly described missense mutations (R22Q, A32V, G73E, A275T, Y278H), one known nonsense mutation (Y198X), and two known missense mutations (S69L, T118M). We found MLC1(wt) was localized to the cell periphery, whereas mutant R22Q, A32V, G73E, S69L and T118M were trapped in the lumen of endoplasmic reticulum (ER) when we transfected the wild-type and mutant MLC1 in U373MG cells. Compared to wild type, the mutant G73E, T118M, Y198X and A275T transcript decreased and all mutants except R22Q had lower protein expression in transfected U373MG cells. Therefore, we propose that all these eight MLC1 mutations had functional effect either on their protein/mRNA expression, or on their intracellular protein localization, or both.

语种: 英语
所属项目编号: 2006BAI05A07 ; 2007CB5119004 ; 30973227
项目资助者: National Key Research Project "11-5&prime ; &prime ; Science and Technology Ministry of China ; National Natural Science Foundation of China
WOS记录号: WOS:000303017700130
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/59139
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.McGill Univ, Montreal Neurol Inst, Montreal, PQ, Canada
2.Shanxi Med Univ, Taiyuan, Shanxi, Peoples R China
3.Peking Univ, Dept Pediat, Hosp 1, Beijing 100871, Peoples R China

Recommended Citation:
Xie, Han,Wang, Jingmin,Dhaunchak, Ajit Singh,et al. Functional Studies of MLC1 Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts[J]. PLOS ONE,2012,7(3).
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