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英国研究人员发现了神经退行性疾病发病的原因,从而为这类疾病的治疗铺平道路

技术组病友 黑-阿米其检索到一篇最新发表的论文,发表于2017年7月17日出版的“自然神经科学”国际杂志上。现在张贴于下,并给出译文。

  New discovery in motor neurone disease and dementia could pave the way to novel treatments。 A new discovery by scientists at the University of Sheffield could help slow down the progression of neurodegenerative diseases such as motor neurone disease (MND), dementia and neurological decline associated with ageing. Motor NeuronesResearchers have identified that tuning up the activity pathway of the DNA’s natural repair toolkit – which normally helps to restore breakages in our genetic material - could help to prevent the death of nerve cells which trigger neurological diseases. Leading scientists from the University of Sheffield’s Department of Molecular Biology and Biotechnology (MBB) and its Sheffield Institute of Translational Neuroscience (SITraN) examined the C9orf72 gene which contains six DNA nucleotides –the building blocks of our DNA where all important cellular information is stored. When this series of nucleotides is expanded and repeated multiple times, neurodegenerative diseases can occur. The expansions of the gene forms genetic mere able to cope and did not die. Discovering this new mechanism and its consequence is a significant step towards developing new therapies for motor neurone disease and other neurodegenerative conditions."  “More research needs to be done, but it’s possible that this newly discovered mechanism contributes to the death of nerve cells in people suffering from diseases such as Alzheimer’s, Parkinson’s and during the ageing process.”Professor El-Khamisy, Wellcome Trust Investigator, added: “I’m really excited, if we modulate this degradation process, we can preserve our DNA repair toolkit and take away the pathology, the cell death. The discovery based on work conducted in cellular and mouse models of the disease could pave the way for new therapies for devastating diseases such as MND, which is one of the most common neurodegenerative disorders affecting younger people in the middle of their active life. MND is a progressive and debilitating condition that causes paralysis of muscles in the body leading to difficulties walking, moving, talking, swallowing, and breathing. The rapid deterioration of muscle movement means life expectancy for patients with the disease is three to five years. There are currently no treatments to tackle the disease. Professor Azzouz, ERC Advanced Investigator from SITraN at the University of Sheffield, said: “This discovery is addressing one of the major challenges of namely the poor understanding of how neurones die in these MND patients. “The research paves the way for an exciting horizon to accelerate the pace of therapeutic development for MND. Our aim now is to identify targets that can preserve the DNA toolkits and rescue neurons from degeneration." “I am delighted that this fruitful collaborative effort led to this exciting discovery.


“译文: 


 在运动神经元和痴呆病研究中的新发现有可能为新的治疗方法铺平道路 

  

   谢菲尔德大学研究人员的新发现有可能减慢神经退化性疾病的病情发展,如运动神经元疾病,老年痴呆病以及与年龄相关的神经退化疾病。        

   运动神经元的研究人员已经确认,对DNA自然修复工具包的活动路径的调整--这通常有助于在我们的遗传物质中恢复损伤--可以防止引起神经系统疾病的神经细胞的死亡。来自谢菲尔德大学分子生物学与生物技术系和谢菲尔德神经传译研究所的顶尖科学家们检验了包含有6个DNA核苷酸的c9orf72号基因---一个储存所有重要细胞信息的DNA中的片段部分。当这个基因中的核苷酸被多次扩增和重复时,神经退行性疾病就可能发生。      基因这种扩展形成的遗传物质称作“R--环”,会导致DNA很容易破损。他们发现,在神经元中R-环的积累和DNA破损的增加就引起了神经退行性疾病。   谢菲尔德大学的Sherif El-Khamisy教授和Mimoun Azzouz教授在今天出版的(2017年7月17日)“自然神经科学”杂志发表了他们的最新研究。研究表明,(基因中核苷酸数量)扩展驱动了此过程的过度激活,因而降低了DNA工具箱的某些很珍贵的功能,从而导致了细胞最终的死亡。 El-Khamisy教授说:“我们利用遗传技术可以关闭掉这个引起细胞自修复功能失控的退化过程。” 

 “尽管DNA仍然是损坏的,但是细胞却能够应对而不会死亡。这种新机制和其结果的发现,是对运动神经元疾病以及其它神经退行性条件新的治疗方法,迈出的重要一步。”“更多的研究还需要去做。但是这种新发现的机制对患有某些疾病,如老年痴呆症,帕金森病以及年龄老化过程的病人神经细胞的死亡(的减慢)作出贡献是完全可能的。   El-Khamisy教授,威康信托基金会研究员,补充道:“我确实很激动,如果我们调节了这一退化过程,我们就能够保存下DNA修复工具箱的功能,从而违背生理学的原规律, 而避免细胞的死亡。”   

   基于患病细胞和小鼠模型试验的这一发现为治疗毁灭性疾病,如运动神经元病(MND)--一种较常见的,影响着处在生命中期年轻人生命的神经系统疾病,铺平了道路。MND(运动神经元病)是一种渐进的,逐渐虚弱的疾病,会产生全身的肌肉瘫痪,导致行走,活动,讲话,吞咽和呼吸困难。肌肉运动能力的迅速恶化意味着患有该病的患者的寿命预期只有3-5年。这种病目前为止还没有治疗方法。  Azzouz教授,ERC高级研究员,说道:“这个发现解决一个主要的挑战,即对这种MND患者神经元死亡的理解不足的困扰。” “这一研究为加速MND疾病治疗方法的进展铺平了激动人心的道路。现在,我们的目标就是来寻找和确定能够保存DNA工具箱功能并拯救神经元免于退化的靶目标。”    “我非常高兴这一激动人心的成果是我们合作得到的。


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