Myelodysplastic syndrome: an inability to appropriately respond to damaged DNA?
Myelodysplastic syndrome: an inability to appropriately respond to damaged DNA?
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DOI：
10.1016/j.exphem.2013.04.008
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发表时间：
2013-08
影响因子：
2.6
通讯作者：
Rebel, Vivienne I.
中科院分区：
文献类型：
--
作者：
Zhou, Ting;Hasty, Paul;Walter, Christi A.;Bishop, Alexander J. R.;Scott, Linda M.;Rebel, Vivienne I.
骨髓增生异常综合征（MDS）是一种造血干细胞（HSC）疾病，其特征是异常的造血分化和发展为急性髓性白血病（AML）的高倾向性。它主要与高龄有关，但也与先前的抗癌治疗和与DNA修复异常相关的遗传综合征有关。最近的技术进步已经导致鉴定出与MDS相关的大量频繁发生的基因组扰动。这些观察结果表明，MDS及其向AML的进展是一种基因组不稳定性疾病，由遗传异常的逐步积累引起。现在出现的概念是，这种疾病的潜在机制可能是一个或多个参与响应或修复受损DNA的途径中的缺陷。在这篇综述中，我们将讨论这些途径与MDS患者样本和MDS小鼠模型进行了大量的研究。此外，鉴于我们目前对HSC中DNA损伤反应/修复途径如何受年龄影响的理解，我们还将探讨这与MDS发展的关系。
Myelodysplastic syndrome (MDS) is considered a hematopoietic stem cell (HSC) disease, characterized by abnormal hematopoietic differentiation and a high propensity to develop acute myeloid leukemia (AML). It is mostly associated with advanced age, but also with prior anti-cancer therapy and inherited syndromes related to abnormalities in DNA repair. Recent technological advances have led to the identification of a myriad of frequently occurring genomic perturbations associated with MDS. These observations suggest that MDS and its progression to AML is a genomic instability disorder, resulting from a step-wise accumulation of genetic abnormalities. The notion is now emerging that the underlying mechanism of this disease may be a defect in one or more pathways that are involved in responding to or repairing damaged DNA. In this review, we will discuss these pathways in relationship to a large number of studies performed with MDS patient samples and MDS mouse models. Moreover, in view of our current understanding of how DNA damage response/repair pathways are affected by age in HSCs, we will also explore how this might relate to MDS development.
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影响因子：
10.5
作者：
Bender, CF;Sikes, ML;Petrini, JHJ
通讯作者：
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影响因子：
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作者：
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通讯作者：
Soulier, Jean
DOI：
10.1073/pnas.0804507105
发表时间：
2008-09-16
影响因子：
11.1
作者：
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通讯作者：
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影响因子：
3.2
作者：
Bhatia R;Deeg HJ
通讯作者：
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影响因子：
3.5
作者：
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通讯作者：
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