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胎儿血红蛋白的转录调节因子。

Transcriptional regulators of fetal hemoglobin.

作者信息

Santos Gabriela Pereira Dos, Rabi Larissa Teodoro, Bezerra André Alves, da Cunha Marcelo Rodrigues, Iatecola Amilton, Fernandes Victor Augusto Ramos

机构信息

Nossa Senhora do Patrocínio University Center, Itú, SP, Brazil.

Nossa Senhora do Patrocínio University Center, Itú, SP, Brazil; Laboratory of Cancer Molecular Genetics, School of Medical Sciences (FCM), University of Campinas (UNICAMP), Campinas, SP, Brazil; Institute of Health Sciences, Paulista University (UNIP), Campinas, SP, Brazil.

出版信息

Hematol Transfus Cell Ther. 2024 Nov;46 Suppl 5(Suppl 5):S258-S268. doi: 10.1016/j.htct.2024.06.001. Epub 2024 Aug 17.

DOI:10.1016/j.htct.2024.06.001
PMID:39237431
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11670590/
Abstract

Sickle cell anemia is a hereditary disease caused by sickle-shaped red blood cells that can lead to vaso-occlusive crises. Treatment options are currently limited, highlighting the need to develop new clinical approaches. Studies demonstrated that elevated levels of fetal hemoglobin (Hb F) are associated with a reduction of mortality and morbidity in sickle cell anemia patients. In light of this, researchers have been trying to elucidate the transcriptional regulation of Hb F to develop new therapeutic interventions. The present study aimed to present the main transcription factors of Hb F and discuss the clinical feasibility of these molecular targets. Two search strategies were used in the PubMed, SciELO, and LILACS databases between July and August 2023 to conduct this review. Manual searches were also conducted by checking references of potentially eligible studies. Eligibility criteria consisted of clinical trials and cohort studies from the last five years that investigated transcription factors associated with Hb F. The transcription factors investigated in at least four eligible studies were included in this review. As a result, 56 eligible studies provided data on the BCL11A, LRF, NF-Y, GATA1, KLF1, HRI, ATF4, and MYB factors. The studies demonstrated that Hb F is cooperatively regulated by transcription factors with the BCL11A factor appearing to be the most specific target gene for γ-globin induction. Although these data are promising, there are still significant gaps and intervention limitations due to the adverse functions of the target genes. New studies that clarify the aspects and functionalities of Hb F regulators may enable new clinical approaches for sickle cell anemia patients.

摘要

镰状细胞贫血是一种由镰状红细胞引起的遗传性疾病,可导致血管阻塞性危象。目前的治疗选择有限,这凸显了开发新临床方法的必要性。研究表明,胎儿血红蛋白(Hb F)水平升高与镰状细胞贫血患者的死亡率和发病率降低有关。有鉴于此,研究人员一直在试图阐明Hb F的转录调控机制,以开发新的治疗干预措施。本研究旨在介绍Hb F的主要转录因子,并讨论这些分子靶点的临床可行性。2023年7月至8月期间,在PubMed、SciELO和LILACS数据库中使用了两种检索策略来进行本综述。还通过查阅潜在合格研究的参考文献进行了手工检索。纳入标准包括过去五年中调查与Hb F相关转录因子的临床试验和队列研究。本综述纳入了至少四项合格研究中所研究的转录因子。结果,56项合格研究提供了关于BCL11A、LRF、NF-Y、GATA1、KLF1、HRI、ATF4和MYB因子的数据。研究表明,Hb F由转录因子协同调控,其中BCL11A因子似乎是诱导γ-珠蛋白最特异的靶基因。尽管这些数据很有前景,但由于靶基因的不良功能,仍然存在重大差距和干预限制。阐明Hb F调节因子的各个方面和功能的新研究可能为镰状细胞贫血患者带来新的临床方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80d8/11670590/003abc7a7f17/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80d8/11670590/c4a581aab662/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80d8/11670590/f54ddda7ad43/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80d8/11670590/93d0dd49cb01/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80d8/11670590/81a68c066741/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80d8/11670590/003abc7a7f17/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80d8/11670590/c4a581aab662/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80d8/11670590/f54ddda7ad43/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80d8/11670590/93d0dd49cb01/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80d8/11670590/81a68c066741/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80d8/11670590/003abc7a7f17/gr5.jpg

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本文引用的文献

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Molecular basis of non-deletional HPFH in Thailand and identification of two novel mutations at the binding sites of CCAAT and GATA-1 transcription factors.泰国非缺失型 HPFH 的分子基础及 CCAAT 和 GATA-1 转录因子结合位点两个新突变的鉴定。
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MBD2a-NuRD binds to the methylated γ-globin gene promoter and uniquely forms a complex required for silencing of HbF expression.MBD2a-NuRD 结合到甲基化的 γ-珠蛋白基因启动子上,并独特地形成一个沉默 HbF 表达所必需的复合物。
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用于治疗β-血红蛋白病的临床治疗的造血干细胞和祖细胞的自动化良好生产规范兼容的 CRISPR-Cas9 编辑。
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MYB insufficiency disrupts proteostasis in hematopoietic stem cells, leading to age-related neoplasia.MYB 不足会破坏造血干细胞中的蛋白质平衡,导致与年龄相关的肿瘤发生。
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