用于治疗罕见肝脏疾病的基因组编辑技术。
Genome editing technologies to treat rare liver diseases.
作者信息
Trevisan Marta, Masi Giulia, Palù Giorgio
机构信息
Department of Molecular Medicine, University of Padova, Padova, Italy.
出版信息
Transl Gastroenterol Hepatol. 2020 Apr 5;5:23. doi: 10.21037/tgh.2019.10.10. eCollection 2020.
Abstract
Liver has a central role in protein and lipid metabolism, and diseases involving hepatocytes have often repercussions on multiple organs and systems. Hepatic disorders are frequently characterized by production of defective or non-functional proteins, and traditional gene therapy approaches have been attempted for years to restore adequate protein levels through delivery of transgenes. Recently, many different genome editing platforms have been developed aimed at correcting at DNA level the defects underlying the diseases. In this Review we discuss the latest applications of these tools applied to develop therapeutic strategies for rare liver disorders, in particular updating the literature with the most recent strategies relying on base editors technology.
摘要
肝脏在蛋白质和脂质代谢中起核心作用，涉及肝细胞的疾病常常会对多个器官和系统产生影响。肝脏疾病的特征通常是产生有缺陷或无功能的蛋白质，多年来人们一直尝试采用传统基因治疗方法，通过转基因传递来恢复足够的蛋白质水平。最近，人们开发了许多不同的基因组编辑平台，旨在在DNA水平上纠正导致疾病的缺陷。在本综述中，我们讨论了这些工具在开发罕见肝脏疾病治疗策略方面的最新应用，特别是用基于碱基编辑器技术的最新策略更新文献。
相似文献
1
Genome editing technologies to treat rare liver diseases.用于治疗罕见肝脏疾病的基因组编辑技术。
Transl Gastroenterol Hepatol. 2020 Apr 5;5:23. doi: 10.21037/tgh.2019.10.10. eCollection 2020.
2
Therapeutic editing of hepatocyte genome in vivo.体内肝细胞基因组的治疗性编辑。
J Hepatol. 2017 Oct;67(4):818-828. doi: 10.1016/j.jhep.2017.05.012. Epub 2017 May 17.
3
Recent Progress in Genome Editing Approaches for Inherited Cardiovascular Diseases.近年来遗传性心血管疾病的基因组编辑方法研究进展
Curr Cardiol Rep. 2018 Jun 2;20(7):58. doi: 10.1007/s11886-018-0998-3.
4
CRISPR base editors: genome editing without double-stranded breaks.CRISPR 碱基编辑器：无需双链断裂的基因组编辑。
Biochem J. 2018 Jun 11;475(11):1955-1964. doi: 10.1042/BCJ20170793.
5
Precise A•T to G•C base editing in the zebrafish genome.在斑马鱼基因组中进行精确的 A•T 到 G•C 碱基编辑。
BMC Biol. 2018 Nov 20;16(1):139. doi: 10.1186/s12915-018-0609-1.
6
In vivo genome editing targeted towards the female reproductive system.针对女性生殖系统的体内基因组编辑。
Arch Pharm Res. 2018 Sep;41(9):898-910. doi: 10.1007/s12272-018-1053-z. Epub 2018 Jul 4.
7
Genome editing in cardiovascular diseases.心血管疾病中的基因组编辑。
Nat Rev Cardiol. 2017 Jan;14(1):11-20. doi: 10.1038/nrcardio.2016.139. Epub 2016 Sep 9.
8
CRISPR editing in biological and biomedical investigation.CRISPR 编辑在生物学和生物医学研究中的应用。
J Cell Physiol. 2018 May;233(5):3875-3891. doi: 10.1002/jcp.26141. Epub 2017 Sep 7.
9
Genome Editing for the Study of Cardiovascular Diseases.用于心血管疾病研究的基因组编辑
Curr Cardiol Rep. 2017 Mar;19(3):22. doi: 10.1007/s11886-017-0830-5.
10
Genetic-Based Approaches to Inherited Metabolic Liver Diseases.基于遗传的遗传性代谢性肝病治疗方法。
Hum Gene Ther. 2019 Oct;30(10):1190-1203. doi: 10.1089/hum.2019.140.
引用本文的文献
1
Emerging trends in virus and virus-like particle gene therapy delivery to the brain.病毒及病毒样颗粒基因治疗载体递送至大脑的新趋势
Mol Ther Nucleic Acids. 2024 Jul 19;35(3):102280. doi: 10.1016/j.omtn.2024.102280. eCollection 2024 Sep 10.
2
Lipid-nanoparticle-enabled nucleic acid therapeutics for liver disorders.用于肝脏疾病的脂质纳米颗粒核酸疗法。
Acta Pharm Sin B. 2024 Jul;14(7):2885-2900. doi: 10.1016/j.apsb.2024.04.015. Epub 2024 Apr 22.
3
Induced Pluripotent Stem Cells and CRISPR-Cas9 Innovations for Treating Alpha-1 Antitrypsin Deficiency and Glycogen Storage Diseases.诱导多能干细胞和 CRISPR-Cas9 创新技术治疗 α-1 抗胰蛋白酶缺乏症和糖原贮积病。
Cells. 2024 Jun 18;13(12):1052. doi: 10.3390/cells13121052.
4
Lethality rescue and long-term amelioration of a citrullinemia type I mouse model by neonatal gene-targeting combined to SaCRISPR-Cas9.通过将新生儿基因靶向与SaCRISPR-Cas9相结合对I型瓜氨酸血症小鼠模型进行致死率挽救和长期改善
Mol Ther Methods Clin Dev. 2023 Aug 28;31:101103. doi: 10.1016/j.omtm.2023.08.022. eCollection 2023 Dec 14.
5
From Puppies to adults: editing of hepatocytes in a canine model of glycogen storage disease type Ia.从幼犬到成年犬：Ia型糖原贮积病犬模型中肝细胞的编辑
Mol Ther Methods Clin Dev. 2023 May 9;29:347-349. doi: 10.1016/j.omtm.2023.04.006. eCollection 2023 Jun 8.
6
Promoterless Gene Targeting Approach Combined to CRISPR/Cas9 Efficiently Corrects Hemophilia B Phenotype in Neonatal Mice.无启动子基因靶向方法与CRISPR/Cas9相结合可有效纠正新生小鼠的血友病B表型。
Front Genome Ed. 2022 Mar 11;4:785698. doi: 10.3389/fgeed.2022.785698. eCollection 2022.
7
Rare and undiagnosed liver diseases: challenges and opportunities.罕见及未确诊的肝脏疾病：挑战与机遇
Transl Gastroenterol Hepatol. 2021 Apr 5;6:18. doi: 10.21037/tgh-2020-05. eCollection 2021.
8
Base editing: advances and therapeutic opportunities.碱基编辑：进展与治疗机遇。
Nat Rev Drug Discov. 2020 Dec;19(12):839-859. doi: 10.1038/s41573-020-0084-6. Epub 2020 Oct 19.
本文引用的文献
1
Universal Correction of Blood Coagulation Factor VIII in Patient-Derived Induced Pluripotent Stem Cells Using CRISPR/Cas9.利用 CRISPR/Cas9 对患者来源的诱导多能干细胞中的凝血因子 VIII 进行普遍纠正。
Stem Cell Reports. 2019 Jun 11;12(6):1242-1249. doi: 10.1016/j.stemcr.2019.04.016. Epub 2019 May 16.
2
Induced Pluripotent Stem Cell Derivation and Ex Vivo Gene Correction Using a Mucopolysaccharidosis Type 1 Disease Mouse Model.利用1型黏多糖贮积症疾病小鼠模型进行诱导多能干细胞的诱导及体外基因校正
Stem Cells Int. 2019 Apr 1;2019:6978303. doi: 10.1155/2019/6978303. eCollection 2019.
3
Restoration of FVIII expression by targeted gene insertion in the FVIII locus in hemophilia A patient-derived iPSCs.通过在血友病 A 患者来源的 iPSCs 中的 FVIII 基因座中进行靶向基因插入来恢复 FVIII 表达。
Exp Mol Med. 2019 Apr 17;51(4):1-9. doi: 10.1038/s12276-019-0243-1.
4
Hepatocyte Reprograming Promotes Homology-Directed DNA Repair to Correct Metabolic Disease in Mice After Transplantation.肝细胞重编程促进同源定向DNA修复以纠正移植后小鼠的代谢疾病。
Hepatol Commun. 2019 Feb 15;3(4):558-573. doi: 10.1002/hep4.1315. eCollection 2019 Apr.
5
Non-viral Delivery of Zinc Finger Nuclease mRNA Enables Highly Efficient In Vivo Genome Editing of Multiple Therapeutic Gene Targets.锌指核酸酶 mRNA 的非病毒递送可实现多个治疗性基因靶标在体内的高效基因组编辑。
Mol Ther. 2019 Apr 10;27(4):866-877. doi: 10.1016/j.ymthe.2019.03.003. Epub 2019 Mar 7.
6
Cytosine, but not adenine, base editors induce genome-wide off-target mutations in rice.胞嘧啶而非腺嘌呤碱基编辑器在水稻中诱导全基因组脱靶突变。
Science. 2019 Apr 19;364(6437):292-295. doi: 10.1126/science.aaw7166. Epub 2019 Feb 28.
7
Cytosine base editor generates substantial off-target single-nucleotide variants in mouse embryos.胞嘧啶碱基编辑器在小鼠胚胎中产生大量的脱靶单核苷酸变异。
Science. 2019 Apr 19;364(6437):289-292. doi: 10.1126/science.aav9973. Epub 2019 Feb 28.
8
Long-term correction of hemophilia B using adenoviral delivery of CRISPR/Cas9.使用腺病毒递送CRISPR/Cas9对血友病B进行长期校正。
J Control Release. 2019 Mar 28;298:128-141. doi: 10.1016/j.jconrel.2019.02.009. Epub 2019 Feb 13.
9
In vivo genome and base editing of a human PCSK9 knock-in hypercholesterolemic mouse model.在体基因和碱基编辑人 PCSK9 基因敲入高胆固醇血症小鼠模型。
BMC Biol. 2019 Jan 15;17(1):4. doi: 10.1186/s12915-018-0624-2.
10
Genome editing in primary cells and in vivo using viral-derived Nanoblades loaded with Cas9-sgRNA ribonucleoproteins.使用装载 Cas9-sgRNA 核糖核蛋白的病毒衍生的 Nanoblades 在原代细胞和体内进行基因组编辑。
Nat Commun. 2019 Jan 3;10(1):45. doi: 10.1038/s41467-018-07845-z.
Zotero 插件