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2
Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1.全身性腺相关病毒9型基因疗法可延长1型尼曼-匹克病小鼠的寿命。
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本文引用的文献

1
Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1.全身性腺相关病毒9型基因疗法可延长1型尼曼-匹克病小鼠的寿命。
Hum Mol Genet. 2017 Jan 1;26(1):52-64. doi: 10.1093/hmg/ddw367.
2
Genome editing with CRISPR/Cas9 in postnatal mice corrects PRKAG2 cardiac syndrome.利用CRISPR/Cas9对出生后小鼠进行基因组编辑可纠正PRKAG2心脏综合征。
Cell Res. 2016 Oct;26(10):1099-1111. doi: 10.1038/cr.2016.101. Epub 2016 Aug 30.
3
Recent Developments in Gene Therapy for Homozygous Familial Hypercholesterolemia.纯合子家族性高胆固醇血症基因治疗的最新进展
Curr Atheroscler Rep. 2016 May;18(5):22. doi: 10.1007/s11883-016-0579-0.
4
A dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn mice.一种双腺相关病毒（AAV）系统能够在新生小鼠中实现Cas9介导的代谢性肝病矫正。
Nat Biotechnol. 2016 Mar;34(3):334-8. doi: 10.1038/nbt.3469. Epub 2016 Feb 1.
5
Gene therapy for hemophilia: past, present and future.血友病的基因治疗：过去、现在与未来
Semin Hematol. 2016 Jan;53(1):46-54. doi: 10.1053/j.seminhematol.2015.10.002. Epub 2015 Oct 28.
6
New and improved AAVenues: current status of hemophilia B gene therapy.新型改良的腺相关病毒载体应用途径：B型血友病基因治疗的现状
Expert Opin Biol Ther. 2016;16(1):79-92. doi: 10.1517/14712598.2015.1106475. Epub 2015 Nov 2.
7
Cholesterol transport through lysosome-peroxisome membrane contacts.胆固醇通过溶酶体-过氧化物酶体膜接触运输。
Cell. 2015 Apr 9;161(2):291-306. doi: 10.1016/j.cell.2015.02.019.
8
Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease.脑池内注射环糊精可预防猫尼曼-匹克C1型病中的小脑功能障碍和浦肯野细胞死亡。
Sci Transl Med. 2015 Feb 25;7(276):276ra26. doi: 10.1126/scitranslmed.3010101.
9
Therapeutic potential of cyclodextrins in the treatment of Niemann-Pick type C disease.环糊精在治疗尼曼-匹克C型病中的治疗潜力。
Clin Lipidol. 2012 Jun;7(3):289-301. doi: 10.2217/clp.12.31.
10
Prevention of muscular dystrophy in mice by CRISPR/Cas9-mediated editing of germline DNA.利用 CRISPR/Cas9 介导的种系 DNA 编辑预防小鼠肌肉萎缩症。
Science. 2014 Sep 5;345(6201):1184-1188. doi: 10.1126/science.1254445. Epub 2014 Aug 14.

腺相关病毒9型-尼曼-皮克病蛋白1（AAV9-NPC1）可显著改善小鼠尼曼-皮克病中的浦肯野细胞死亡和行为异常。

AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease.

作者信息

Xie Chang, Gong Xue-Min, Luo Jie, Li Bo-Liang, Song Bao-Liang

机构信息

Hubei Key Laboratory of Cell Homeostasis, College of Life Sciences, Institute for Advanced Studies, Wuhan University, Wuhan 430072, China.

Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China.

出版信息

J Lipid Res. 2017 Mar;58(3):512-518. doi: 10.1194/jlr.M071274. Epub 2017 Jan 4.

DOI:10.1194/jlr.M071274
PMID:28053186
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5335581/
Abstract

Niemann-Pick type C (NPC) disease is a fatal inherited neurodegenerative disorder caused by loss-of-function mutations in the or gene. There is no effective way to treat NPC disease. In this study, we used adeno-associated virus (AAV) serotype 9 (AAV9) to deliver a functional gene systemically into mice at postnatal day 4. One single AAV9-NPC1 injection resulted in robust NPC1 expression in various tissues, including brain, heart, and lung. Strikingly, AAV9-mediated NPC1 delivery significantly promoted Purkinje cell survival, restored locomotor activity and coordination, and increased the lifespan of mice. Our work suggests that AAV-based gene therapy is a promising means to treat NPC disease.

摘要

尼曼-匹克C型（NPC）病是一种致命的遗传性神经退行性疾病，由NPC1或NPC2基因的功能丧失突变引起。目前尚无治疗NPC病的有效方法。在本研究中，我们使用9型腺相关病毒（AAV9）在出生后第4天将功能性NPC1基因全身递送至Npc1−/−小鼠体内。单次注射AAV9-NPC1可使包括脑、心脏和肺在内的各种组织中NPC1大量表达。令人惊讶的是，AAV9介导的NPC1递送显著促进了浦肯野细胞的存活，恢复了运动活性和协调性，并延长了Npc1−/−小鼠的寿命。我们的工作表明，基于AAV的基因治疗是治疗NPC病的一种有前景的方法。