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Mar Drugs. 2022 Nov 11;20(11):708. doi: 10.3390/md20110708.
3
Cell Biology of Parkin: Clues to the Development of New Therapeutics for Parkinson's Disease.帕金蛋白的细胞生物学:帕金森病新疗法开发的线索
CNS Drugs. 2022 Dec;36(12):1249-1267. doi: 10.1007/s40263-022-00973-7. Epub 2022 Nov 15.
4
Restoration of the GTPase activity and cellular interactions of Gα mutants by Zn in encephalopathy models.锌在脑病模型中对Gα突变体的GTP酶活性和细胞相互作用的恢复作用
Sci Adv. 2022 Oct 7;8(40):eabn9350. doi: 10.1126/sciadv.abn9350.
5
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.在自闭症中对从头突变进行果蝇功能筛选,揭示了破坏性突变,并有助于发现罕见的神经发育疾病。
Cell Rep. 2022 Mar 15;38(11):110517. doi: 10.1016/j.celrep.2022.110517.
6
Mouse models characterize GNAO1 encephalopathy as a neurodevelopmental disorder leading to motor anomalies: from a severe G203R to a milder C215Y mutation.鼠模型将 GNAO1 脑病表征为一种神经发育障碍,导致运动异常:从严重的 G203R 突变到更轻微的 C215Y 突变。
Acta Neuropathol Commun. 2022 Jan 28;10(1):9. doi: 10.1186/s40478-022-01312-z.
7
Neurofibromin and suppression of tumorigenesis: beyond the GAP.神经纤维瘤病和抑瘤作用:不仅仅是 GAP。
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8
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神经疾病建模的人性化:提高果蝇模型系统潜力的路线图。

Humanization for neurological disease modeling: A roadmap to increase the potential of Drosophila model systems.

机构信息

Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

HumanaFly Facility, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

出版信息

Animal Model Exp Med. 2023 Jun;6(3):230-236. doi: 10.1002/ame2.12322. Epub 2023 May 8.

DOI:10.1002/ame2.12322
PMID:37323110
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10272901/
Abstract

Neuroscience and neurology research is dominated by experimentation with rodents. Around 75% of neurology disease-associated genes have orthologs in Drosophila melanogaster, the fruit fly amenable to complex neurological and behavioral investigations. However, non-vertebrate models including Drosophila have so far been unable to significantly replace mice and rats in this field of studies. One reason for this situation is the predominance of gene overexpression (and gene loss-of-function) methodologies used when establishing a Drosophila model of a given neurological disease, a strategy that does not recapitulate accurately enough the genetic disease conditions. I argue here the need for a systematic humanization approach, whereby the Drosophila orthologs of human disease genes are replaced with the human sequences. This approach will identify the list of diseases and the underlying genes that can be adequately modeled in the fruit fly. I discuss the neurological disease genes to which this systematic humanization approach should be applied and provide an example of such an application, and consider its importance for subsequent disease modeling and drug discovery in Drosophila. I argue that this paradigm will not only advance our understanding of the molecular etiology of a number of neurological disorders, but will also gradually enable researchers to reduce experimentation using rodent models of multiple neurological diseases and eventually replace these models.

摘要

神经科学和神经学研究主要以啮齿动物实验为主。大约 75%的与神经疾病相关的基因在黑腹果蝇(果蝇,一种适合进行复杂神经和行为研究的模式生物)中具有同源基因。然而,包括果蝇在内的非脊椎动物模型迄今为止还不能在该研究领域显著替代小鼠和大鼠。造成这种情况的原因之一是在建立特定神经疾病的果蝇模型时,过度表达(和基因功能丧失)基因的方法占据主导地位,这种策略不能足够准确地再现遗传疾病状况。在这里,我认为需要一种系统的人类化方法,即用人类疾病基因的果蝇同源基因替代。这种方法将确定可以在果蝇中充分建模的疾病列表和潜在基因。我讨论了应将这种系统人类化方法应用于哪些神经疾病基因,并提供了一个这样的应用实例,还考虑了其对随后在果蝇中进行疾病建模和药物发现的重要性。我认为,这种范式不仅将促进我们对许多神经障碍的分子病因的理解,而且还将逐渐使研究人员能够减少对多种神经疾病的啮齿动物模型的实验,并最终替代这些模型。