Sickle Cell Disease: From Genetics to Curative Approaches.

IF 7.7 2区 生物学 Q1 GENETICS & HEREDITY
Giulia Hardouin, Elisa Magrin, Alice Corsia, Marina Cavazzana, Annarita Miccio, Michaela Semeraro
{"title":"Sickle Cell Disease: From Genetics to Curative Approaches.","authors":"Giulia Hardouin,&nbsp;Elisa Magrin,&nbsp;Alice Corsia,&nbsp;Marina Cavazzana,&nbsp;Annarita Miccio,&nbsp;Michaela Semeraro","doi":"10.1146/annurev-genom-120122-081037","DOIUrl":null,"url":null,"abstract":"<p><p>Sickle cell disease (SCD) is a monogenic blood disease caused by a point mutation in the gene coding for β-globin. The abnormal hemoglobin [sickle hemoglobin (HbS)] polymerizes under low-oxygen conditions and causes red blood cells to sickle. The clinical presentation varies from very severe (with acute pain, chronic pain, and early mortality) to normal (few complications and a normal life span). The variability of SCD might be due (in part) to various genetic modulators. First, we review the main genetic factors, polymorphisms, and modifier genes that influence the expression of globin or otherwise modulate the severity of SCD. Considering SCD as a complex, multifactorial disorder is important for the development of appropriate pharmacological and genetic treatments. Second, we review the characteristics, advantages, and disadvantages of the latest advances in gene therapy for SCD, from lentiviral-vector-based approaches to gene-editing strategies.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"24 ","pages":"255-275"},"PeriodicalIF":7.7000,"publicationDate":"2023-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annual review of genomics and human genetics","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1146/annurev-genom-120122-081037","RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

Abstract

Sickle cell disease (SCD) is a monogenic blood disease caused by a point mutation in the gene coding for β-globin. The abnormal hemoglobin [sickle hemoglobin (HbS)] polymerizes under low-oxygen conditions and causes red blood cells to sickle. The clinical presentation varies from very severe (with acute pain, chronic pain, and early mortality) to normal (few complications and a normal life span). The variability of SCD might be due (in part) to various genetic modulators. First, we review the main genetic factors, polymorphisms, and modifier genes that influence the expression of globin or otherwise modulate the severity of SCD. Considering SCD as a complex, multifactorial disorder is important for the development of appropriate pharmacological and genetic treatments. Second, we review the characteristics, advantages, and disadvantages of the latest advances in gene therapy for SCD, from lentiviral-vector-based approaches to gene-editing strategies.

镰状细胞病:从遗传学到治疗方法。
镰状细胞病(SCD)是一种由β-珠蛋白编码基因点突变引起的单基因血液病。异常血红蛋白[镰状血红蛋白(HbS)]在低氧条件下聚合并导致红细胞呈镰状。临床表现从非常严重(伴有急性疼痛、慢性疼痛和早期死亡)到正常(很少并发症和正常寿命)不等。SCD的变异性可能(部分)归因于各种遗传调节剂。首先,我们回顾了影响珠蛋白表达或以其他方式调节SCD严重程度的主要遗传因素、多态性和修饰基因。考虑到SCD是一种复杂的,多因素的疾病,对于开发适当的药物和基因治疗是重要的。其次,我们回顾了SCD基因治疗最新进展的特点、优缺点,从基于慢病毒载体的方法到基因编辑策略。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
CiteScore
14.90
自引率
1.10%
发文量
29
期刊介绍: Since its inception in 2000, the Annual Review of Genomics and Human Genetics has been dedicated to showcasing significant developments in genomics as they pertain to human genetics and the human genome. The journal emphasizes genomic technology, genome structure and function, genetic modification, human variation and population genetics, human evolution, and various aspects of human genetic diseases, including individualized medicine.
×
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
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
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 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信