果蝇模型在遗传性神经发育障碍中的应用。
Drosophila modeling of heritable neurodevelopmental disorders.
机构信息
Departments of Biological Sciences and Cell and Developmental Biology, Kennedy Center for Research on Human Development, Vanderbilt University, Nashville, TN 37232, USA.
出版信息
Curr Opin Neurobiol. 2011 Dec;21(6):834-41. doi: 10.1016/j.conb.2011.04.009. Epub 2011 May 17.
Abstract
Heritable neurodevelopmental disorders are multifaceted disease conditions encompassing a wide range of symptoms including intellectual disability, cognitive dysfunction, autism and myriad other behavioral impairments. In cases where single, causative genetic defects have been identified, such as Angelman syndrome, Rett syndrome, Neurofibromatosis Type 1 and Fragile X syndrome, the classical Drosophila genetic system has provided fruitful disease models. Recent Drosophila studies have advanced our understanding of UBE3A, MECP2, NF1 and FMR1 function, respectively, in genetic, biochemical, anatomical, physiological and behavioral contexts. Investigations in Drosophila continue to provide the essential mechanistic understanding required to facilitate the conception of rational therapeutic treatments.
摘要
遗传性神经发育障碍是一种多方面的疾病，包括智力障碍、认知功能障碍、自闭症和无数其他行为障碍等多种症状。在已经确定单一致病基因缺陷的情况下，例如 Angelman 综合征、Rett 综合征、神经纤维瘤病 1 型和脆性 X 综合征，经典的果蝇遗传系统提供了富有成效的疾病模型。最近的果蝇研究分别在遗传、生化、解剖、生理和行为背景下，增进了我们对 UBE3A、MECP2、NF1 和 FMR1 功能的理解。在果蝇中的研究继续提供了必要的机制理解，以促进合理治疗方法的构想。
相似文献
1
Drosophila modeling of heritable neurodevelopmental disorders.果蝇模型在遗传性神经发育障碍中的应用。
Curr Opin Neurobiol. 2011 Dec;21(6):834-41. doi: 10.1016/j.conb.2011.04.009. Epub 2011 May 17.
2
Touchscreen learning deficits in Ube3a, Ts65Dn and Mecp2 mouse models of neurodevelopmental disorders with intellectual disabilities.智力障碍神经发育障碍的Ube3a、Ts65Dn和Mecp2小鼠模型中的触摸屏学习缺陷。
Genes Brain Behav. 2018 Jul;17(6):e12452. doi: 10.1111/gbb.12452. Epub 2018 Feb 15.
3
Wnd/DLK Is a Critical Target of FMRP Responsible for Neurodevelopmental and Behavior Defects in the Drosophila Model of Fragile X Syndrome.Wnd/DLK 是脆性 X 综合征果蝇模型中神经发育和行为缺陷的关键 FMRP 靶标。
Cell Rep. 2019 Sep 3;28(10):2581-2593.e5. doi: 10.1016/j.celrep.2019.08.001.
4
as a Model to Study Fragile X-Associated Disorders.作为研究脆性 X 相关疾病的模型。
Genes (Basel). 2022 Dec 28;14(1):87. doi: 10.3390/genes14010087.
5
Bisphenol F affects neurodevelopmental gene expression, mushroom body development, and behavior in Drosophila melanogaster.双酚 F 会影响黑腹果蝇的神经发育基因表达、蘑菇体发育和行为。
Neurotoxicol Teratol. 2024 Mar-Apr;102:107331. doi: 10.1016/j.ntt.2024.107331. Epub 2024 Jan 30.
6
Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.自闭症谱系神经发育障碍中的表观遗传重叠：MECP2 缺乏导致 UBE3A 和 GABRB3 的表达降低。
Hum Mol Genet. 2005 Feb 15;14(4):483-92. doi: 10.1093/hmg/ddi045. Epub 2004 Dec 22.
7
Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder.自闭症谱系障碍果蝇模型行为评估范式。
J Vis Exp. 2024 Sep 6(211). doi: 10.3791/66649.
8
Genetic background mutations drive neural circuit hyperconnectivity in a fragile X syndrome model.遗传背景突变导致脆性 X 综合征模型中的神经回路过度连接。
BMC Biol. 2020 Jul 30;18(1):94. doi: 10.1186/s12915-020-00817-0.
9
Insulin signaling misregulation underlies circadian and cognitive deficits in a Drosophila fragile X model.在果蝇脆性X模型中，胰岛素信号失调是昼夜节律和认知缺陷的基础。
Mol Psychiatry. 2017 Aug;22(8):1140-1148. doi: 10.1038/mp.2016.51. Epub 2016 Apr 19.
10
The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders.GABAA 受体作为神经发育障碍的治疗靶点。
Neuron. 2015 Jun 3;86(5):1119-30. doi: 10.1016/j.neuron.2015.03.042.
引用本文的文献
1
: How and Why It Became a Model Organism.它如何以及为何成为一种模式生物。
Int J Mol Sci. 2025 Aug 2;26(15):7485. doi: 10.3390/ijms26157485.
2
Unraveling neuronal and metabolic alterations in neurofibromatosis type 1.解析神经纤维瘤病 1 型中的神经元和代谢改变。
J Neurodev Disord. 2024 Aug 31;16(1):49. doi: 10.1186/s11689-024-09565-6.
3
A Drosophila model relevant to chemotherapy-related cognitive impairment.一个与化疗相关认知障碍相关的果蝇模型。
Sci Rep. 2023 Nov 7;13(1):19290. doi: 10.1038/s41598-023-46616-9.
4
Effects of valproate on seizure-like activity in with a knockdown of in different neuronal populations as a model of Angelman Syndrome.以不同神经元群体中[基因名称]敲低作为安吉尔曼综合征模型，研究丙戊酸盐对癫痫样活动的影响。 （注：原文中“with a knockdown of in different neuronal populations”部分“”处应有具体基因名称未给出）
Epilepsy Behav Rep. 2023 Sep 28;24:100622. doi: 10.1016/j.ebr.2023.100622. eCollection 2023.
5
regulates early developmental sleep in .调节……中的早期发育睡眠。 （原句不完整，缺少具体调节对象，此为根据现有内容的直译）
Neurobiol Sleep Circadian Rhythms. 2023 Aug 9;15:100101. doi: 10.1016/j.nbscr.2023.100101. eCollection 2023 Nov.
6
AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in neurodevelopmental disorders.AGAP1 相关的内溶酶体运输异常将神经发育障碍中的基因-环境相互作用联系起来。
Dis Model Mech. 2023 Sep 1;16(9). doi: 10.1242/dmm.049838. Epub 2023 Sep 26.
7
Editorial: Advances in understanding synaptic function and its dysfunction in neurological disorders.社论：神经疾病中突触功能及其功能障碍认识的进展
Front Mol Neurosci. 2023 Jun 29;16:1239315. doi: 10.3389/fnmol.2023.1239315. eCollection 2023.
8
Research models of neurodevelopmental disorders: The right model in the right place.神经发育障碍的研究模型：在正确的位置选择正确的模型。
Front Neurosci. 2022 Oct 20;16:1031075. doi: 10.3389/fnins.2022.1031075. eCollection 2022.
9
Modeling dopamine dysfunction in autism spectrum disorder: From invertebrates to vertebrates.自闭症谱系障碍中多巴胺功能障碍的建模：从无脊椎动物到脊椎动物。
Neurosci Biobehav Rev. 2022 Feb;133:104494. doi: 10.1016/j.neubiorev.2021.12.017. Epub 2021 Dec 11.
10
Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes-Jensen syndrome.将组蛋白去甲基化酶 KDM5C 中的变异与智力残疾障碍 Claes-Jensen 综合征相关的分子和细胞事件。
FEBS J. 2022 Dec;289(24):7776-7787. doi: 10.1111/febs.16204. Epub 2021 Sep 29.
本文引用的文献
1
Genetic controls balancing excitatory and inhibitory synaptogenesis in neurodevelopmental disorder models.遗传调控平衡神经发育障碍模型中的兴奋性和抑制性突触发生。
Front Synaptic Neurosci. 2010 Jun 7;2:4. doi: 10.3389/fnsyn.2010.00004. eCollection 2010.
2
Rett syndrome: the state of clinical and basic research, and future perspectives.雷特综合征：临床与基础研究现状及未来展望
Brain Dev. 2011 Sep;33(8):627-31. doi: 10.1016/j.braindev.2010.12.007. Epub 2011 Jan 12.
3
Drosophila Ube3a regulates monoamine synthesis by increasing GTP cyclohydrolase I activity via a non-ubiquitin ligase mechanism.果蝇 Ube3a 通过非泛素连接酶机制增加 GTP 环化水解酶 I 的活性来调节单胺合成。
Neurobiol Dis. 2011 Mar;41(3):669-77. doi: 10.1016/j.nbd.2010.12.001. Epub 2010 Dec 13.
4
dFMRP and Caprin, translational regulators of synaptic plasticity, control the cell cycle at the Drosophila mid-blastula transition.dFMRP 和 Caprin，突触可塑性的翻译调节因子，控制果蝇中胚层过渡时期的细胞周期。
Development. 2010 Dec;137(24):4201-9. doi: 10.1242/dev.055046. Epub 2010 Nov 10.
5
Drosophila FMRP regulates microtubule network formation and axonal transport of mitochondria.果蝇 FMRP 调节微管网络的形成和线粒体的轴突运输。
Hum Mol Genet. 2011 Jan 1;20(1):51-63. doi: 10.1093/hmg/ddq431. Epub 2010 Oct 8.
6
The fragile X mental retardation protein developmentally regulates the strength and fidelity of calcium signaling in Drosophila mushroom body neurons.脆性 X 智力迟钝蛋白在发育过程中调节果蝇蘑菇体神经元钙信号的强度和保真度。
Neurobiol Dis. 2011 Jan;41(1):147-59. doi: 10.1016/j.nbd.2010.09.002. Epub 2010 Sep 16.
7
Loss of dopaminergic neurons and resulting behavioural deficits in mouse model of Angelman syndrome.Angelman 综合征小鼠模型中多巴胺能神经元的丧失和由此导致的行为缺陷。
Neurobiol Dis. 2010 Dec;40(3):586-92. doi: 10.1016/j.nbd.2010.08.002. Epub 2010 Aug 6.
8
Bicaudal-D regulates fragile X mental retardation protein levels, motility, and function during neuronal morphogenesis.双尾蛋白调控脆性 X 智力低下蛋白的水平、运动性和神经元形态发生过程中的功能。
Curr Biol. 2010 Aug 24;20(16):1487-92. doi: 10.1016/j.cub.2010.07.016. Epub 2010 Aug 5.
9
Fragile X syndrome and model organisms: identifying potential routes of therapeutic intervention.脆性 X 综合征与模式生物：探寻潜在的治疗干预途径。
Dis Model Mech. 2010 Nov-Dec;3(11-12):693-700. doi: 10.1242/dmm.002006. Epub 2010 Aug 3.
10
A distinct set of Drosophila brain neurons required for neurofibromatosis type 1-dependent learning and memory.一组独特的果蝇脑神经元，对于神经纤维瘤病 1 型依赖性学习和记忆是必需的。
J Neurosci. 2010 Jul 28;30(30):10135-43. doi: 10.1523/JNEUROSCI.0283-10.2010.
Zotero 插件