超越目前范可尼贫血的治疗:基于细胞和基因的方法的进展提供了什么?

IF 6.9 2区 医学 Q1 HEMATOLOGY
Elena Martínez-Balsalobre , Jean-Hugues Guervilly , Jenny van Asbeck-van der Wijst , Ana Belén Pérez-Oliva , Christophe Lachaud
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引用次数: 1

摘要

范可尼贫血(FA)是一种罕见的遗传性疾病,主要影响骨髓。这种情况会导致所有类型血细胞的产生减少。FA是由DNA链间交联修复缺陷引起的,迄今为止,已有20多种基因突变与该疾病有关。科学和分子生物学的进步为FA基因突变与临床表现严重程度之间的关系提供了新的见解。在这里,我们将重点介绍这种罕见疾病的当前和有希望的治疗方案。目前FA患者的标准治疗是造血干细胞移植,这是一种与放疗或化疗、免疫并发症、长期免疫功能不全或发病风险增加导致的机会性感染相关的治疗方法。新出现的治疗方法包括基因添加疗法,使用CRISPR-Cas9核酸酶进行基因组编辑,以及诱导多能干细胞生成造血干细胞。最后,我们还将讨论mRNA疗法的革命性发展,作为治疗这种疾病的机会。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Beyond current treatment of Fanconi Anemia: What do advances in cell and gene-based approaches offer?

Beyond current treatment of Fanconi Anemia: What do advances in cell and gene-based approaches offer?

Fanconi anemia (FA) is a rare inherited disorder that mainly affects the bone marrow. This condition causes decreased production of all types of blood cells. FA is caused by a defective repair of DNA interstrand crosslinks and to date, mutations in over 20 genes have been linked to the disease. Advances in science and molecular biology have provided new insight between FA gene mutations and the severity of clinical manifestations. Here, we will highlight the current and promising therapeutic options for this rare disease. The current standard treatment for FA patients is hematopoietic stem cell transplantation, a treatment associated to exposure to radiation or chemotherapy, immunological complications, plus opportunistic infections from prolonged immune incompetence or increased risk of morbidity. New arising treatments include gene addition therapy, genome editing using CRISPR-Cas9 nuclease, and hematopoietic stem cell generation from induced pluripotent stem cells. Finally, we will also discuss the revolutionary developments in mRNA therapeutics as an opportunity for this disease.

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来源期刊
Blood Reviews
Blood Reviews 医学-血液学
CiteScore
13.80
自引率
1.40%
发文量
78
期刊介绍: Blood Reviews, a highly regarded international journal, serves as a vital information hub, offering comprehensive evaluations of clinical practices and research insights from esteemed experts. Specially commissioned, peer-reviewed articles authored by leading researchers and practitioners ensure extensive global coverage across all sub-specialties of hematology.
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