在果蝇中研究多聚谷氨酰胺疾病。
Studying polyglutamine diseases in Drosophila.
作者信息
Xu Zhen, Tito Antonio Joel, Rui Yan-Ning, Zhang Sheng
机构信息
The Brown Foundation Institute of Molecular Medicine, 1825 Pressler Street, Houston, TX 77030, United States; The University of Texas Medical School at Houston, 1825 Pressler Street, Houston, TX 77030, United States; The University of Texas Health Science Center at Houston (UTHealth), 1825 Pressler Street, Houston, TX 77030, United States.
The Brown Foundation Institute of Molecular Medicine, 1825 Pressler Street, Houston, TX 77030, United States; Programs in Human and Molecular Genetics and Neuroscience, 1825 Pressler Street, Houston, TX 77030, United States; The University of Texas Graduate School of Biomedical Sciences, 1825 Pressler Street, Houston, TX 77030, United States; The University of Texas Medical School at Houston, 1825 Pressler Street, Houston, TX 77030, United States; The University of Texas Health Science Center at Houston (UTHealth), 1825 Pressler Street, Houston, TX 77030, United States.
出版信息
Exp Neurol. 2015 Dec;274(Pt A):25-41. doi: 10.1016/j.expneurol.2015.08.002. Epub 2015 Aug 6.
Polyglutamine (polyQ) diseases are a family of dominantly transmitted neurodegenerative disorders caused by an abnormal expansion of CAG trinucleotide repeats in the protein-coding regions of the respective disease-causing genes. Despite their simple genetic basis, the etiology of these diseases is far from clear. Over the past two decades, Drosophila has proven to be successful in modeling this family of neurodegenerative disorders, including the faithful recapitulation of pathological features such as polyQ length-dependent formation of protein aggregates and progressive neuronal degeneration. Additionally, it has been valuable in probing the pathogenic mechanisms, in identifying and evaluating disease modifiers, and in helping elucidate the normal functions of disease-causing genes. Knowledge learned from this simple invertebrate organism has had a large impact on our understanding of these devastating brain diseases.
聚谷氨酰胺（polyQ）疾病是一类显性遗传的神经退行性疾病，由相应致病基因的蛋白质编码区中CAG三核苷酸重复序列异常扩增所致。尽管其遗传基础简单，但这些疾病的病因仍远未明确。在过去二十年中，果蝇已被证明在模拟这类神经退行性疾病方面取得了成功，包括忠实地重现诸如聚谷氨酰胺长度依赖性蛋白质聚集体形成和进行性神经元变性等病理特征。此外，它在探究致病机制、识别和评估疾病修饰因子以及帮助阐明致病基因的正常功能方面也具有重要价值。从这种简单的无脊椎动物身上学到的知识对我们理解这些毁灭性脑部疾病产生了重大影响。
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