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神经退行性变的途径:从……的无偏见基因筛选中学到的经验教训

Pathways to neurodegeneration: lessons learnt from unbiased genetic screens in .

作者信息

Singhal Neha, Jaiswal Manish

机构信息

Tata Institute of Fundamental Research Hyderabad, Hyderabad 500 107, India.

出版信息

J Genet. 2018 Jul;97(3):773-781.

Abstract

Neurodegenerative diseases are a complex set of disorders that are known to be caused by environmental as well as genetic factors. In the recent past, mutations in a large number of genes have been identified that are linked to several neurodegenerative diseases. The pathogenic mechanisms in most of these disorders are unknown. Recently, studies of genes that are linked to neurodegeneration in , the fruit flies, have contributed significantly to our understanding of mechanisms of neuroprotection and degeneration. In this review, we focus on forward genetic screens in that helped in identification of novel genes and pathogenic mechanisms linked to neurodegeneration. We also discuss identification of four novel pathways that contribute to neurodegeneration upon mitochondrial dysfunction.

摘要

神经退行性疾病是一组复杂的病症,已知由环境因素和遗传因素引起。最近,已鉴定出大量与多种神经退行性疾病相关的基因突变。这些疾病中大多数的致病机制尚不清楚。最近,对果蝇中与神经退行性变相关基因的研究,为我们理解神经保护和退变机制做出了重大贡献。在这篇综述中,我们重点关注果蝇中的正向遗传学筛选,这些筛选有助于鉴定与神经退行性变相关的新基因和致病机制。我们还讨论了在线粒体功能障碍时导致神经退行性变的四条新途径的鉴定。

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