Transthyretin-Related Hereditary Amyloidosis in a Chinese Family with TTR Y114C Mutation

被引：12
|
作者：
Zhang, Yu [1 ,2 ]
Deng, Yu-Lei [1 ,2 ]
Ma, Jian-Fang [1 ,2 ]
Zheng, Lan [1 ,2 ]
Hong, Zhen [1 ,2 ]
Wang, Zhi-Quan [3 ,4 ]
Sheng, Cheng-Yu [3 ,4 ]
Xiao, Qin [1 ,2 ]
Cao, Li [1 ,2 ]
Chen, Sheng-Di [1 ,3 ,4 ]
机构：
[1] Shanghai Jiao Tong Univ, Sch Med, Ruijin Hosp Affiliated, Dept Neurol, Shanghai 200025, Peoples R China
[2] Shanghai Jiao Tong Univ, Sch Med, Ruijin Hosp Affiliated, Inst Neurol, Shanghai 200025, Peoples R China
[3] Chinese Acad Sci, Shanghai Inst Biol Sci, Lab Neurodegenerat Dis, Shanghai, Peoples R China
[4] Chinese Acad Sci, Key Lab Stem Cell Biol, Inst Hlth Sci, Shanghai Inst Biol Sci, Shanghai, Peoples R China
来源：
NEURODEGENERATIVE DISEASES | 2011年 / 8卷 / 04期
关键词：
Transthyretin-related hereditary amyloidosis; Extracellular-signal-regulated kinase 1/2; Tyr114Cys; Chinese; ELECTRON MICROSCOPE; PERIPHERAL NERVE; POLYNEUROPATHY; ACTIVATION; DISEASE;
D O I：
10.1159/000321679
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Background: Transthyretin-related hereditary amyloidosis is an autosomal dominant inherited disease caused by mutations in the transthyretin (TTR) gene. Corresponding to the various transthyretin gene mutations and a wide range of geographical distribution, transthyretin-related hereditary amyloidosis presents diverse characteristics in genotype-phenotype correlation. Objective/Method: Here, we identify the clinical characteristics of a Chinese family affected by transthyretin-related hereditary amyloidosis with TTR Tyr114Cys mutation. Results/Conclusion: The pathogenic mechanism studies showed that the protein encoded by TTR Tyr114Cys is more easily depolymerized to form amyloid fibrils. Moreover, the cytotoxicity of the TTR Tyr114Cys may be attributed to its ability to persistently activate the extracellular-signal-regulated kinase 1/2 pathway. Copyright (C) 2010 S. Karger AG, Basel
引用
收藏
页码：187 / 193
页数：7
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