• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

婴儿恶性骨硬化症的基因治疗：临床前研究综述及表型逆转的概念验证

Gene therapy for infantile malignant osteopetrosis: review of pre-clinical research and proof-of-concept for phenotypic reversal.

作者信息

Moscatelli Ilana, Almarza Elena, Schambach Axel, Ricks David, Schulz Ansgar, Herzog Christopher D, Henriksen Kim, Askmyr Maria, Schwartz Jonathan D, Richter Johan

机构信息

Department of Molecular Medicine and Gene Therapy, Lund Strategic Center for Stem Cell Biology, Lund University, Lund, Sweden.

Rocket Pharmaceuticals, Inc., New York, NY, USA.

出版信息

Mol Ther Methods Clin Dev. 2020 Dec 25;20:389-397. doi: 10.1016/j.omtm.2020.12.009. eCollection 2021 Mar 12.

DOI:10.1016/j.omtm.2020.12.009
PMID:33575431
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7848732/
Abstract

Infantile malignant osteopetrosis is a devastating disorder of early childhood that is frequently fatal and for which there are only limited therapeutic options. Gene therapy utilizing autologous hematopoietic stem and progenitor cells represents a potentially advantageous therapeutic alternative for this multisystemic disease. Gene therapy can be performed relatively rapidly following diagnosis, will not result in graft versus host disease, and may also have potential for reduced incidences of other transplant-related complications. In this review, we have summarized the past sixteen years of research aimed at developing a gene therapy for infantile malignant osteopetrosis; these efforts have culminated in the first clinical trial employing lentiviral-mediated delivery of in autologous hematopoietic stem and progenitor cells.

摘要

婴儿恶性骨硬化症是一种严重的幼儿疾病，常常致命，且治疗选择有限。利用自体造血干细胞和祖细胞进行基因治疗是这种多系统疾病一种潜在的有利治疗选择。基因治疗在诊断后可相对迅速地进行，不会导致移植物抗宿主病，还可能降低其他移植相关并发症的发生率。在这篇综述中，我们总结了过去十六年中旨在开发婴儿恶性骨硬化症基因治疗方法的研究；这些努力最终促成了首例使用慢病毒介导在自体造血干细胞和祖细胞中递送[具体物质未给出]的临床试验。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8017/7848732/60489cfd1965/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8017/7848732/4e21fc4d84dd/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8017/7848732/86b3eeb95515/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8017/7848732/f1a9bc48f188/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8017/7848732/bff27f0445af/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8017/7848732/5f2384cc5ac2/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8017/7848732/60489cfd1965/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8017/7848732/4e21fc4d84dd/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8017/7848732/86b3eeb95515/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8017/7848732/f1a9bc48f188/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8017/7848732/bff27f0445af/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8017/7848732/5f2384cc5ac2/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8017/7848732/60489cfd1965/gr5.jpg

相似文献

1
Gene therapy for infantile malignant osteopetrosis: review of pre-clinical research and proof-of-concept for phenotypic reversal.婴儿恶性骨硬化症的基因治疗：临床前研究综述及表型逆转的概念验证
Mol Ther Methods Clin Dev. 2020 Dec 25;20:389-397. doi: 10.1016/j.omtm.2020.12.009. eCollection 2021 Mar 12.
2
Hematopoietic Stem Cell-Targeted Neonatal Gene Therapy with a Clinically Applicable Lentiviral Vector Corrects Osteopetrosis in Mice.利用临床适用的慢病毒载体对造血干细胞进行靶向性新生儿基因治疗可纠正小鼠的骨质石化症。
Hum Gene Ther. 2019 Nov;30(11):1395-1404. doi: 10.1089/hum.2019.047. Epub 2019 Jul 3.
3
TCIRG1 Transgenic Rescue of Osteoclast Function Using Induced Pluripotent Stem Cells Derived from Patients with Infantile Malignant Autosomal Recessive Osteopetrosis.TCIRG1 转基因诱导多能干细胞拯救来自婴儿恶性常染色体隐性遗传骨硬化症患者的破骨细胞功能。
J Bone Joint Surg Am. 2019 Nov 6;101(21):1939-1947. doi: 10.2106/JBJS.19.00558.
4
Lentiviral gene transfer of TCIRG1 into peripheral blood CD34(+) cells restores osteoclast function in infantile malignant osteopetrosis.慢病毒基因转导 TCIRG1 到外周血 CD34(+)细胞可恢复婴儿恶性骨硬化症的破骨细胞功能。
Bone. 2013 Nov;57(1):1-9. doi: 10.1016/j.bone.2013.07.026. Epub 2013 Jul 29.
5
Regulation and Function of Lentiviral Vector-Mediated TCIRG1 Expression in Osteoclasts from Patients with Infantile Malignant Osteopetrosis: Implications for Gene Therapy.慢病毒载体介导的婴儿恶性骨硬化症患者破骨细胞中TCIRG1表达的调控与功能：对基因治疗的启示
Calcif Tissue Int. 2016 Dec;99(6):638-648. doi: 10.1007/s00223-016-0187-6. Epub 2016 Aug 19.
6
Malignant Infantile osteopetrosis.恶性婴儿骨硬化症。
Rev Chil Pediatr. 2019 Aug;90(4):443-447. doi: 10.32641/rchped.v90i4.987.
7
Targeting NSG Mice Engrafting Cells with a Clinically Applicable Lentiviral Vector Corrects Osteoclasts in Infantile Malignant Osteopetrosis.利用临床适用的慢病毒载体靶向 NSG 小鼠移植细胞可纠正婴儿恶性骨质硬化症中的破骨细胞。
Hum Gene Ther. 2018 Aug;29(8):938-949. doi: 10.1089/hum.2017.053. Epub 2017 Oct 3.
8
Comparison of Optic Canal Diameter in Children With Malignant Infantile Osteopetrosis and Normal Children and the Effects of Hematopoietic Stem Cell Transplantation on the Optic Canal Diameter.恶性婴儿型骨硬化症患儿与正常儿童视神经管直径的比较及造血干细胞移植对视神经管直径的影响
J Pediatr Ophthalmol Strabismus. 2019 Jan 23;56(1):35-42. doi: 10.3928/01913913-20180921-01. Epub 2018 Oct 26.
9
A fatal case of infantile malignant osteopetrosis complicated by pulmonary arterial hypertension after hematopoietic stem cell transplantation.1例造血干细胞移植后并发肺动脉高压的婴儿恶性骨硬化症致死病例。
Tohoku J Exp Med. 2014 Dec;234(4):309-12. doi: 10.1620/tjem.234.309.
10
[Identification of new mutations in TCIRG1 as a cause of infantile malignant osteopetrosis in two Mexican patients].[鉴定TCIRG1新突变作为两名墨西哥患者婴儿恶性骨硬化症的病因]
Rev Alerg Mex. 2018 Jan-Mar;65(1):108-116. doi: 10.29262/ram.v65i1.314.

引用本文的文献

1
Correction of osteopetrosis in the neonate murine model after lentiviral vector gene therapy and non-genotoxic conditioning.经慢病毒载体基因治疗和非遗传毒性预处理后，纠正新生鼠模型中的成骨不全症。
Front Endocrinol (Lausanne). 2024 Sep 9;15:1450349. doi: 10.3389/fendo.2024.1450349. eCollection 2024.
2
Lysosomal biogenesis and function in osteoclasts: a comprehensive review.破骨细胞中的溶酶体生物发生与功能：综述
Front Cell Dev Biol. 2024 Aug 7;12:1431566. doi: 10.3389/fcell.2024.1431566. eCollection 2024.
3
Integrative Analysis Identifies TCIRG1 as a Potential Prognostic and Immunotherapy-Relevant Biomarker Associated with Malignant Cell Migration in Clear Cell Renal Cell Carcinoma.

本文引用的文献

1
Generation of gene-corrected functional osteoclasts from osteopetrotic induced pluripotent stem cells.从成骨发育不全诱导多能干细胞中生成基因校正功能破骨细胞。
Stem Cell Res Ther. 2020 May 15;11(1):179. doi: 10.1186/s13287-020-01701-y.
2
Expanded circulating hematopoietic stem/progenitor cells as novel cell source for the treatment of TCIRG1 osteopetrosis.扩增的循环造血干/祖细胞作为治疗 TCIRG1 性骨硬化症的新型细胞来源。
Haematologica. 2021 Jan 1;106(1):74-86. doi: 10.3324/haematol.2019.238261.
3
Generation of an immunodeficient mouse model of tcirg1-deficient autosomal recessive osteopetrosis.
综合分析确定TCIRG1是一种与透明细胞肾细胞癌中恶性细胞迁移相关的潜在预后和免疫治疗相关生物标志物。
Cancers (Basel). 2022 Sep 21;14(19):4583. doi: 10.3390/cancers14194583.
4
Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.五例常染色体隐性遗传骨硬化症中国患者的临床和分子特征。
Mol Genet Genomic Med. 2021 Nov;9(11):e1815. doi: 10.1002/mgg3.1815. Epub 2021 Sep 21.
生成tcirg1缺陷型常染色体隐性骨硬化症的免疫缺陷小鼠模型。
Bone Rep. 2020 Jan 7;12:100242. doi: 10.1016/j.bonr.2020.100242. eCollection 2020 Jun.
4
Autologous Stem-Cell-Based Gene Therapy for Inherited Disorders: State of the Art and Perspectives.基于自体干细胞的遗传性疾病基因治疗：现状与展望
Front Pediatr. 2019 Oct 31;7:443. doi: 10.3389/fped.2019.00443. eCollection 2019.
5
TCIRG1 Transgenic Rescue of Osteoclast Function Using Induced Pluripotent Stem Cells Derived from Patients with Infantile Malignant Autosomal Recessive Osteopetrosis.TCIRG1 转基因诱导多能干细胞拯救来自婴儿恶性常染色体隐性遗传骨硬化症患者的破骨细胞功能。
J Bone Joint Surg Am. 2019 Nov 6;101(21):1939-1947. doi: 10.2106/JBJS.19.00558.
6
Hematopoietic Stem Cell-Targeted Neonatal Gene Therapy with a Clinically Applicable Lentiviral Vector Corrects Osteopetrosis in Mice.利用临床适用的慢病毒载体对造血干细胞进行靶向性新生儿基因治疗可纠正小鼠的骨质石化症。
Hum Gene Ther. 2019 Nov;30(11):1395-1404. doi: 10.1089/hum.2019.047. Epub 2019 Jul 3.
7
Developmental origin, functional maintenance and genetic rescue of osteoclasts.破骨细胞的发育起源、功能维持和遗传修复。
Nature. 2019 Apr;568(7753):541-545. doi: 10.1038/s41586-019-1105-7. Epub 2019 Apr 10.
8
One Disease, Many Genes: Implications for the Treatment of Osteopetroses.一种疾病，多个基因：对骨硬化症治疗的启示
Front Endocrinol (Lausanne). 2019 Feb 19;10:85. doi: 10.3389/fendo.2019.00085. eCollection 2019.
9
Targeting NSG Mice Engrafting Cells with a Clinically Applicable Lentiviral Vector Corrects Osteoclasts in Infantile Malignant Osteopetrosis.利用临床适用的慢病毒载体靶向 NSG 小鼠移植细胞可纠正婴儿恶性骨质硬化症中的破骨细胞。
Hum Gene Ther. 2018 Aug;29(8):938-949. doi: 10.1089/hum.2017.053. Epub 2017 Oct 3.
10
Gene Therapy in a Patient with Sickle Cell Disease.基因治疗镰状细胞病患者。
N Engl J Med. 2017 Mar 2;376(9):848-855. doi: 10.1056/NEJMoa1609677.