ε-肌聚糖蛋白中的一个点突变在一个中国家系中诱发遗传性肌阵挛性肌张力障碍综合征。
A point mutation in ε-sarcoglycan induces inherited myoclonus dystonia syndrome in a Chinese family.
作者信息
Yan Hailiang, Guan Xiaoting, Wang Luning, Tan Jiping, Wang Guihong, An Yuan, Zhang Yan
机构信息
State Key Laboratory of Biomembrane and Membrane Biotechnology, College of Life Sciences, Peking University Beijing, 100871, China.
出版信息
Int J Clin Exp Med. 2013 Apr 12;6(4):289-93. Print 2013.
Abstract
Myoclonus dystonia syndrome is a rare movement disorder featured by myoclonic jerks and dystonia. We identified here a point mutation in ε-sarcoglycan gene exon 6 associating with inherited myoclonus dystonia syndrome in a Chinese Han family. The mutation identified induces a stop codon and terminates the transcription of ε-sarcoglycan mRNA. This in turn results in a large truncation of ε-sarcoglycan protein. The further investigation is required to understand physiological and pathological functions of ε-sarcoglycan.
摘要
肌阵挛性肌张力障碍综合征是一种罕见的运动障碍，其特征为肌阵挛性抽搐和肌张力障碍。我们在此鉴定出一个中国汉族家系中与遗传性肌阵挛性肌张力障碍综合征相关的ε-肌聚糖基因第6外显子的点突变。所鉴定出的突变导致一个终止密码子，从而终止了ε-肌聚糖信使核糖核酸的转录。这进而导致ε-肌聚糖蛋白的大量截短。需要进一步研究以了解ε-肌聚糖的生理和病理功能。
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本文引用的文献
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Trends Neurosci. 2012 Aug;35(8):487-96. doi: 10.1016/j.tins.2012.04.004. Epub 2012 May 23.
2
Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis.原发性肌张力障碍和肌张力障碍综合征：临床特征、诊断和发病机制。
Lancet Neurol. 2011 Dec;10(12):1074-85. doi: 10.1016/S1474-4422(11)70232-0. Epub 2011 Oct 24.
3
A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway.与肌阵挛-肌张力障碍综合征相关的糖基化获得性突变影响小鼠 ε-肌聚糖在晚期分泌途径中的运输和加工。
Hum Mutat. 2011 Nov;32(11):1246-58. doi: 10.1002/humu.21561. Epub 2011 Sep 15.
4
Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review.精神障碍、肌阵挛性肌张力障碍和 ε- 横纹肌聚糖基因：系统评价。
Mov Disord. 2011 Aug 15;26(10):1939-42. doi: 10.1002/mds.23791. Epub 2011 Jun 28.
5
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Parkinsonism Relat Disord. 2010 Nov;16(9):585-9. doi: 10.1016/j.parkreldis.2010.06.016. Epub 2010 Aug 30.
6
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7
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