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肌萎缩侧索硬化症：新基因、新模型与新机制

Amyotrophic lateral sclerosis: new genes, new models, and new mechanisms.

作者信息

Vande Velde Christine, Dion Patrick A, Rouleau Guy A

出版信息

F1000 Biol Rep. 2011;3:18. doi: 10.3410/B3-18. Epub 2011 Sep 1.

DOI:10.3410/B3-18
PMID:21941597
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3169903/
Abstract

Research aimed at understanding amyotrophic lateral sclerosis (ALS) has seen exceptional growth in the past few years. New genes, new models, and new mechanisms have not only improved our understanding, but also contributed to the increasing complexity of ALS pathogenesis. The focus of this piece is to highlight some of the more notable developments in the field and to encourage a re-appreciation for the superoxide dismutase 1 (SOD1) mouse models.

摘要

过去几年，旨在了解肌萎缩侧索硬化症（ALS）的研究取得了显著进展。新基因、新模型和新机制不仅增进了我们的理解，也使ALS发病机制的复杂性不断增加。本文的重点是突出该领域一些较为显著的进展，并促使人们重新认识超氧化物歧化酶1（SOD1）小鼠模型。

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1
Amyotrophic lateral sclerosis: new genes, new models, and new mechanisms.肌萎缩侧索硬化症：新基因、新模型与新机制
F1000 Biol Rep. 2011;3:18. doi: 10.3410/B3-18. Epub 2011 Sep 1.
2
Does wild-type Cu/Zn-superoxide dismutase have pathogenic roles in amyotrophic lateral sclerosis?野生型铜锌超氧化物歧化酶在肌萎缩侧索硬化症中是否具有致病性作用？
Transl Neurodegener. 2020 Aug 19;9(1):33. doi: 10.1186/s40035-020-00209-y.
3
Novel behavioural characteristics of the superoxide dismutase 1 G93A (SOD1 ) mouse model of amyotrophic lateral sclerosis include sex-dependent phenotypes.肌萎缩侧索硬化症 SOD1 G93A （超氧化物歧化酶 1 ）转基因小鼠模型的新型行为特征包括性别依赖性表型。
Genes Brain Behav. 2020 Feb;19(2):e12604. doi: 10.1111/gbb.12604. Epub 2019 Sep 10.
4
Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.病理性TDP-43可将散发性肌萎缩侧索硬化与伴有SOD1突变的肌萎缩侧索硬化区分开来。
Ann Neurol. 2007 May;61(5):427-34. doi: 10.1002/ana.21147.
5
SOD1 in neurotoxicity and its controversial roles in SOD1 mutation-negative ALS.超氧化物歧化酶1在神经毒性中的作用及其在超氧化物歧化酶1突变阴性肌萎缩侧索硬化症中的争议性作用。
Adv Biol Regul. 2016 Jan;60:95-104. doi: 10.1016/j.jbior.2015.10.006. Epub 2015 Oct 31.
6
Silence superoxide dismutase 1 (SOD1): a promising therapeutic target for amyotrophic lateral sclerosis (ALS).沉默超氧化物歧化酶 1（SOD1）：肌萎缩侧索硬化症（ALS）有前途的治疗靶点。
Expert Opin Ther Targets. 2020 Apr;24(4):295-310. doi: 10.1080/14728222.2020.1738390. Epub 2020 Mar 14.
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Amyotrophic lateral sclerosis models derived from human embryonic stem cells with different superoxide dismutase 1 mutations exhibit differential drug responses.源自具有不同超氧化物歧化酶1突变的人类胚胎干细胞的肌萎缩侧索硬化症模型表现出不同的药物反应。
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Delayed disease onset and extended survival in the SOD1G93A rat model of amyotrophic lateral sclerosis after suppression of mutant SOD1 in the motor cortex.运动皮层中突变型 SOD1 的抑制可使 SOD1G93A 肌萎缩侧索硬化症大鼠模型的发病延迟和生存时间延长。
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9
Progressive impairment of CaV1.1 function in the skeletal muscle of mice expressing a mutant type 1 Cu/Zn superoxide dismutase (G93A) linked to amyotrophic lateral sclerosis.在与肌萎缩侧索硬化症相关的表达突变型1型铜锌超氧化物歧化酶（G93A）的小鼠骨骼肌中，CaV1.1功能的进行性损害。
Skelet Muscle. 2016 Jun 23;6:24. doi: 10.1186/s13395-016-0094-6. eCollection 2016.
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Transgenic mouse model for familial amyotrophic lateral sclerosis with superoxide dismutase-1 mutation.携带超氧化物歧化酶-1突变的家族性肌萎缩侧索硬化症转基因小鼠模型。
Neuropathology. 2001 Mar;21(1):82-92. doi: 10.1046/j.1440-1789.2001.00361.x.

引用本文的文献

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Mitochondrial Dysfunction, Neurogenesis, and Epigenetics: Putative Implications for Amyotrophic Lateral Sclerosis Neurodegeneration and Treatment.线粒体功能障碍、神经发生与表观遗传学：对肌萎缩侧索硬化症神经退行性变及治疗的潜在影响
Front Neurosci. 2020 Jul 15;14:679. doi: 10.3389/fnins.2020.00679. eCollection 2020.
2
Identification of VGF nerve growth factor inducible-producing cells in human spinal cords and expression change in patients with amyotrophic lateral sclerosis.鉴定人脊髓中 VGF 神经生长因子诱导产生细胞及肌萎缩性侧索硬化症患者的表达变化。
Int J Med Sci. 2020 Feb 4;17(4):480-489. doi: 10.7150/ijms.39101. eCollection 2020.
3
Neuropeptide VGF-Derived Peptide LQEQ-19 has Neuroprotective Effects in an In Vitro Model of Amyotrophic Lateral Sclerosis.神经肽 VGF 衍生肽 LQEQ-19 在肌萎缩侧索硬化症的体外模型中具有神经保护作用。
Neurochem Res. 2019 Apr;44(4):897-904. doi: 10.1007/s11064-019-02725-4. Epub 2019 Jan 17.
4
Fasudil, a rho kinase inhibitor, limits motor neuron loss in experimental models of amyotrophic lateral sclerosis.法舒地尔是一种Rho激酶抑制剂，可减少肌萎缩侧索硬化症实验模型中的运动神经元损失。
Br J Pharmacol. 2013 Sep;170(2):341-51. doi: 10.1111/bph.12277.
5
The potential of GPNMB as novel neuroprotective factor in amyotrophic lateral sclerosis.GPNMB 在肌萎缩侧索硬化症中作为新型神经保护因子的潜力。
Sci Rep. 2012;2:573. doi: 10.1038/srep00573. Epub 2012 Aug 13.
6
Functional neuromuscular junctions formed by embryonic stem cell-derived motor neurons.由胚胎干细胞衍生的运动神经元形成的功能性神经肌肉接头。
PLoS One. 2012;7(5):e36049. doi: 10.1371/journal.pone.0036049. Epub 2012 May 4.

本文引用的文献

1
Misfolded SOD1 associated with motor neuron mitochondria alters mitochondrial shape and distribution prior to clinical onset.与运动神经元线粒体相关的错误折叠 SOD1 在临床发病前改变线粒体的形状和分布。
PLoS One. 2011;6(7):e22031. doi: 10.1371/journal.pone.0022031. Epub 2011 Jul 11.
2
Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis.长ATXN2 CAG重复序列长度与肌萎缩侧索硬化症风险增加的关联。
Arch Neurol. 2011 Jun;68(6):739-42. doi: 10.1001/archneurol.2011.111.
3
Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis.家族性和散发性肌萎缩侧索硬化症患者中的新型视神经萎缩蛋白突变。
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4
Ataxin-2 repeat-length variation and neurodegeneration.共济失调蛋白-2 重复长度变异与神经退行性变。
Hum Mol Genet. 2011 Aug 15;20(16):3207-12. doi: 10.1093/hmg/ddr227. Epub 2011 May 24.
5
Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population.在以白种人为主的人群中对肌萎缩侧索硬化症的 OPTN 突变进行筛查。
Neurobiol Aging. 2011 Oct;32(10):1923.e9-10. doi: 10.1016/j.neurobiolaging.2011.03.024. Epub 2011 May 6.
6
Emerging targets and treatments in amyotrophic lateral sclerosis.肌萎缩侧索硬化症的新兴靶点和治疗方法。
Lancet Neurol. 2011 May;10(5):481-90. doi: 10.1016/S1474-4422(11)70024-2.
7
PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats.ATXN2 中与 ALS 相关的聚 Q 重复扩展是 CAA 中断重复。
PLoS One. 2011 Mar 29;6(3):e17951. doi: 10.1371/journal.pone.0017951.
8
Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis.突变分析揭示 FUS 同源物 TAF15 是家族性肌萎缩侧索硬化症的候选基因。
Am J Med Genet B Neuropsychiatr Genet. 2011 Apr;156B(3):285-90. doi: 10.1002/ajmg.b.31158. Epub 2011 Jan 13.
9
RNA targets of TDP-43 identified by UV-CLIP are deregulated in ALS.TDP-43 通过 UV-CLIP 识别的 RNA 靶标在 ALS 中失调。
Mol Cell Neurosci. 2011 Jul;47(3):167-80. doi: 10.1016/j.mcn.2011.02.013. Epub 2011 Mar 21.
10
Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43.长 pre-mRNA 耗竭和 RNA 错剪接导致 TDP-43 缺失引起神经元易损性。
Nat Neurosci. 2011 Apr;14(4):459-68. doi: 10.1038/nn.2779. Epub 2011 Feb 27.