帕金森症可能由突变基因LRRK2引起

时间：2011-03-28 02:04:02

（单词翻译:单击）

Researchers at Mount Sinai School of Medicine have discovered a way that mutations in a gene2 called LRRK2 may cause the most common inherited form of Parkinson's disease. The study, published online this month in the journal Public Library of Science, shows that upon specific modification3 called phosphorylation（磷酸化作用） , LRRK2 protein binds4 to a family of proteins called 14-3-3, which has a regulatory function inside cells. When there is a mutation1 in LRRK2, 14-3-3 is impaired5, leading to Parkinson's. This finding explains how mutations lead to the development of Parkinson's, providing a new diagnostic and drug target for the disease. Using one-of-a-kind mouse models developed at Mount Sinai School of Medicine, Zhenyu Yue, PhD, Associate Professor of Neurology and Neuroscience, and his colleagues, found that several common Parkinson's disease mutations—including one called G2019S—disturb the specific phosphorylation of LRRK2.This impairs6 14-3-3 binding7 with varying degrees, depending on the type of mutation.

"We knew that the LRRK2 mutation triggers a cellular8 response resulting in Parkinson's disease, but we did not know what processes the mutation disrupted," said Dr. Yue. "Now that we know that phosphorylation is disturbed, causing 14-3-3 binding to be impaired, we have a new idea for diagnostic analysis and a new target for drug development."

Dr. Yue's team also identified a potential enzyme9 called protein kinase（蛋白激酶） A (PKA), responsible for the phosphorylation of LRRK2. Although the exact cellular functions disrupted by these changes are unclear, their study provides a starting point for understanding brain signaling that contributes to the disease. Recent studies have shown that 14-3-3 binds to other proteins implicated10 in inherited Parkinson's disease and has a neuroprotective function, and when the binding is impaired due to these mutations, the protection may be lost. The findings also demonstrate additional insight into the functional11 relevance12 of the LRRK2 and 14-3-3 interaction.

The presence of 14-3-3 in spinal13 fluid is already used as a biomarker for the presence of neurodegenerative diseases. Further applications of these findings could point to the use of 14-3-3 as a biomarker in testing for Parkinson's disease.


分享到：


点击收听单词发音收听单词发音  

1 mutation t1PyM     
n.变化，变异，转变
参考例句：
  • People who have this mutation need less sleep than others.有这种突变的人需要的睡眠比其他人少。
  • So far the discussion has centered entirely around mutation in the strict sense.到目前为止，严格来讲，讨论完全集中于围绕突变问题上。
2 gene WgKxx     
n.遗传因子，基因
参考例句：
  • A single gene may have many effects.单一基因可能具有很多种效应。
  • The targeting of gene therapy has been paid close attention.其中基因治疗的靶向性是值得密切关注的问题之一。
3 modification tEZxm     
n.修改，改进，缓和，减轻
参考例句：
  • The law,in its present form,is unjust;it needs modification.现行的法律是不公正的，它需要修改。
  • The design requires considerable modification.这个设计需要作大的修改。
4 binds c1d4f6440575ef07da0adc7e8adbb66c     
v.约束( bind的第三人称单数 )；装订；捆绑；（用长布条）缠绕
参考例句：
  • Frost binds the soil. 霜使土壤凝结。 来自《简明英汉词典》
  • Stones and cement binds strongly. 石头和水泥凝固得很牢。 来自《简明英汉词典》
5 impaired sqtzdr     
adj.受损的；出毛病的；有（身体或智力）缺陷的v.损害，削弱( impair的过去式和过去分词 )
参考例句：
  • Much reading has impaired his vision. 大量读书损害了他的视力。 来自《现代汉英综合大词典》
  • His hearing is somewhat impaired. 他的听觉已受到一定程度的损害。 来自《现代汉英综合大词典》
6 impairs 866bc0da43dd90e04b6073750ff1e87c     
v.损害，削弱( impair的第三人称单数 )
参考例句：
  • Smoking impairs our health. 吸烟会损害我们的健康。 来自《简明英汉词典》
  • Almost anything that impairs liver function can cause hepatitis. 任何有损于肝功能的因素，几乎都会引起肝炎。 来自辞典例句
7 binding 2yEzWb     
有约束力的，有效的，应遵守的
参考例句：
  • The contract was not signed and has no binding force. 合同没有签署因而没有约束力。
  • Both sides have agreed that the arbitration will be binding. 双方都赞同仲裁具有约束力。
8 cellular aU1yo     
adj.移动的；细胞的，由细胞组成的
参考例句：
  • She has a cellular telephone in her car.她的汽车里有一部无线通讯电话机。
  • Many people use cellular materials as sensitive elements in hygrometers.很多人用蜂窝状的材料作为测量温度的传感元件。
9 enzyme cPozF     
n.酵素，酶
参考例句：
  • Above a certain temperature,the enzyme molecule will become unfolded.超过一定温度，酶分子将会展开。
  • An enzyme that dissolves the fibrin of blood clots.能溶解血凝块中的纤维的酶。
10 implicated 8443a53107b44913ed0a3f12cadfa423     
adj.密切关联的；牵涉其中的
参考例句：
  • These groups are very strongly implicated in the violence. 这些组织与这起暴力事件有着极大的关联。 来自《简明英汉词典》
  • Having the stolen goods in his possession implicated him in the robbery. 因藏有赃物使他涉有偷盗的嫌疑。 来自《现代汉英综合大词典》
11 functional 5hMxa     
adj.为实用而设计的，具备功能的，起作用的
参考例句：
  • The telephone was out of order,but is functional now.电话刚才坏了，但现在可以用了。
  • The furniture is not fancy,just functional.这些家具不是摆着好看的，只是为了实用。
12 relevance gVAxg     
n.中肯，适当，关联，相关性
参考例句：
  • Politicians' private lives have no relevance to their public roles.政治家的私生活与他们的公众角色不相关。
  • Her ideas have lost all relevance to the modern world.她的想法与现代社会完全脱节。
13 spinal KFczS     
adj.针的，尖刺的，尖刺状突起的；adj.脊骨的，脊髓的
参考例句：
  • After three days in Japan,the spinal column becomes extraordinarily flexible.在日本三天，就已经使脊椎骨变得富有弹性了。
  • Your spinal column is made up of 24 movable vertebrae.你的脊柱由24个活动的脊椎骨构成。

©2005-2010英文阅读网