治疗血红蛋白病的基因编辑。

IF 2 4区 医学 Q3 HEMATOLOGY Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2024-09-01 eCollection Date: 2024-01-01 DOI:10.4084/MJHID.2024.068
Ugo Testa, Giuseppe Leone, Maria Domenica Cappellini
{"title":"治疗血红蛋白病的基因编辑。","authors":"Ugo Testa, Giuseppe Leone, Maria Domenica Cappellini","doi":"10.4084/MJHID.2024.068","DOIUrl":null,"url":null,"abstract":"<p><p>In the last ten years, a consistent number of clinical studies have evaluated different gene approaches for the treatment of patients with sickle cell disease (SCD) and transfusion-dependent β-thalassemia (TDT). Initial studies of gene therapy for hemoglobinopathies involved the use of lentiviral vectors to add functional copies of the gene encoding β-globin in defective CD34 cells; more recently, gene editing techniques have been used involving either CRISPR-Cas9, transcription activation-like effector protein nuclease, zinc finger nuclease, and base editing to either induce fetal hemoglobin production at therapeutic levels or to genetically repair the underlying molecular defect causing the disease. Here, we review recent gene editing studies that have started the development of a new era in the treatment of hemoglobinopathies and, in general, monoallelic hereditary diseases.</p>","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"16 1","pages":"e2024068"},"PeriodicalIF":2.0000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11385271/pdf/","citationCount":"0","resultStr":"{\"title\":\"Therapeutic Gene Editing for Hemoglobinopathies.\",\"authors\":\"Ugo Testa, Giuseppe Leone, Maria Domenica Cappellini\",\"doi\":\"10.4084/MJHID.2024.068\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>In the last ten years, a consistent number of clinical studies have evaluated different gene approaches for the treatment of patients with sickle cell disease (SCD) and transfusion-dependent β-thalassemia (TDT). Initial studies of gene therapy for hemoglobinopathies involved the use of lentiviral vectors to add functional copies of the gene encoding β-globin in defective CD34 cells; more recently, gene editing techniques have been used involving either CRISPR-Cas9, transcription activation-like effector protein nuclease, zinc finger nuclease, and base editing to either induce fetal hemoglobin production at therapeutic levels or to genetically repair the underlying molecular defect causing the disease. Here, we review recent gene editing studies that have started the development of a new era in the treatment of hemoglobinopathies and, in general, monoallelic hereditary diseases.</p>\",\"PeriodicalId\":18498,\"journal\":{\"name\":\"Mediterranean Journal of Hematology and Infectious Diseases\",\"volume\":\"16 1\",\"pages\":\"e2024068\"},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2024-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11385271/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Mediterranean Journal of Hematology and Infectious Diseases\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.4084/MJHID.2024.068\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Mediterranean Journal of Hematology and Infectious Diseases","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.4084/MJHID.2024.068","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"HEMATOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

近十年来,大量临床研究对治疗镰状细胞病(SCD)和输血依赖型β-地中海贫血(TDT)患者的不同基因方法进行了评估。最初的血红蛋白病基因治疗研究是使用慢病毒载体在有缺陷的 CD34 细胞中添加编码 β-球蛋白基因的功能拷贝;最近,基因编辑技术被用于 CRISPR-Cas9、转录激活样效应蛋白核酸酶、锌指核酸酶和碱基编辑,以诱导胎儿血红蛋白的产生达到治疗水平,或从基因上修复导致疾病的潜在分子缺陷。在此,我们回顾了最近的基因编辑研究,这些研究开启了治疗血红蛋白病以及一般单偶联遗传性疾病的新时代。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Therapeutic Gene Editing for Hemoglobinopathies.

In the last ten years, a consistent number of clinical studies have evaluated different gene approaches for the treatment of patients with sickle cell disease (SCD) and transfusion-dependent β-thalassemia (TDT). Initial studies of gene therapy for hemoglobinopathies involved the use of lentiviral vectors to add functional copies of the gene encoding β-globin in defective CD34 cells; more recently, gene editing techniques have been used involving either CRISPR-Cas9, transcription activation-like effector protein nuclease, zinc finger nuclease, and base editing to either induce fetal hemoglobin production at therapeutic levels or to genetically repair the underlying molecular defect causing the disease. Here, we review recent gene editing studies that have started the development of a new era in the treatment of hemoglobinopathies and, in general, monoallelic hereditary diseases.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
4.20
自引率
6.20%
发文量
113
审稿时长
12 weeks
期刊介绍: Reciprocal interdependence between infectious and hematologic diseases (malignant and non-malignant) is well known. This relationship is particularly evident in Mediterranean countries. Parasitosis as Malaria, Leishmaniosis, B Hookworms, Teniasis, very common in the southeast Mediterranean area, infect about a billion people and manifest prevalently with anemia so that they are usually diagnosed mostly by experienced hematologist on blood or bone marrow smear. On the other hand, infections are also a significant problem in patients affected by hematological malignancies. The blood is the primary vector of HIV infection, which otherwise manifest with symptoms related to a reduction in T lymphocytes. In turn, infections can favor the insurgency of hematological malignancies. The causative relationship between Epstein-Barr virus infection, Helicobacter pylori, hepatitis C virus, HIV and lymphoproliferative diseases is well known.
期刊最新文献
Chimeric Antigen Receptor T Cells for the Treatment of Multiple Myeloma. Effects of Thalidomide on Endothelial Activation and Stress Index in Children with β-Thalassemia Major. Older Adults with Ph Negative Acute Lymphoblastic Leukemia: A Monocentric Experience on 57 Patients Focusing on Treatment Intensity and Age-Related Prognosis. Oral Iron-Hydroxide Polymaltose Complex Versus Sucrosomial Iron for Children with Iron Deficiency with or without Anemia: A Clinical Trial with Emphasis on Intestinal Inflammation. The Performance of 2023 American College of Rheumatology (ACR) / European Alliance of Associations for Rheumatology (EULAR) Antiphospholipid Syndrome Classification Criteria in a Real-World Rheumatology Department.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1