Student Research Committee, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Thalassemia & Hemoglobinopathy Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Expert Rev Hematol. 2024 Oct;17(10):705-712. doi: 10.1080/17474086.2024.2391102. Epub 2024 Aug 13.
Endogenous DNA damage is a significant factor in the damage of hematopoietic cells. Megakaryopoiesis is one of the pathways of hematopoiesis that ends with the production of platelets and plays the most crucial role in hemostasis. Despite the presence of efficient DNA repair mechanisms, some endogenous lesions can lead to mutagenic alterations, disruption of pathways of hematopoiesis including megakaryopoiesis and potentially result in human diseases.
The complex regulation of DNA repair mechanisms plays a central role in maintaining genomic integrity during megakaryopoiesis and influences platelet production efficiency and quality. Moreover, anomalies in DNA repair processes are involved in several diseases associated with megakaryopoiesis, including myeloproliferative disorders and thrombocytopenia.
In the era of personalized medicine, diagnosing diseases related to megakaryopoiesis can only be made with a complete assessment of their molecular aspects to provide physicians with critical molecular data for patient management and to identify the subset of patients who could benefit from targeted therapy.
内源性 DNA 损伤是造血细胞损伤的一个重要因素。巨核细胞生成是造血的途径之一，其最终产物是血小板，在止血中起着至关重要的作用。尽管存在有效的 DNA 修复机制，但一些内源性损伤可能导致诱变改变，破坏包括巨核细胞生成在内的造血途径，并可能导致人类疾病。
DNA 修复机制的复杂调节在巨核细胞生成过程中维持基因组完整性方面起着核心作用，并影响血小板生成的效率和质量。此外，DNA 修复过程中的异常与几种与巨核细胞生成相关的疾病有关，包括骨髓增生性疾病和血小板减少症。
在个性化医疗时代，只有对与巨核细胞生成相关的疾病进行全面的分子评估，才能做出诊断，为医生提供关键的分子数据，以进行患者管理，并确定可能受益于靶向治疗的患者亚群。
