New insights into 5q-syndrome as a ribosomopathy
New insights into 5q-syndrome as a ribosomopathy
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DOI：
10.4161/cc.9.21.13742
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发表时间：
2010-11-01
期刊：
影响因子：
4.3
通讯作者：
McKenzie, Andrew N. J.
中科院分区：
文献类型：
--
作者：
Barlow, Jillian L.;Drynan, Lesley F.;McKenzie, Andrew N. J.
骨髓增生异常综合征（MDS）是一种异质性的获得性克隆性骨髓疾病，以造血功能低下为特征。由于难以精确定位特定的基因突变或单倍体不足，许多这些血液疾病的机制仍然难以捉摸，这可能发生在大的缺失区域。然而，有越来越多的兴趣将这些疾病分类为核糖体病。事实上，研究表明，核糖体蛋白（RP） S14是5q综合征（MDS的一种特殊形式）单倍性不足的强有力候选者。最近，两种新的小鼠模型提供了RPS14和p53通路以及特异性mirna参与5q综合征的证据。在这篇综述中，我们将讨论：5q综合征小鼠模型，关于候选基因的这种血液疾病的可能机制，与其他核糖体疾病的比较，以及p53通路在这些疾病中的作用。
Myelodysplastic Syndromes (MDS) are a heterogeneous group of acquired clonal bone marrow disorders, characterised by ineffective hematopoiesis. The mechanisms underlying many of these blood disorders have remained elusive due to the difficulty in pinpointing specific gene mutations or haploinsufficencies, which can occur within large deleted regions. However, there is an increasing interest in the classification of some of these diseases as ribosomopathies. Indeed, studies have implicated Ribosomal Protein (RP) S14 as a strong candidate for haploinsufficiency in 5q-syndrome, a particular form of MDS. Recently, two novel mouse models have provided evidence for the involvement of both RPS14 and the p53 pathway, and specific miRNAs in 5q-syndrome. In this review we will discuss: 5q-syndrome mouse models, the possible mechanisms underlying this blood disorder with respect to the candidate genes and comparisons with other ribosomopathies and the involvement of the p53 pathway in these diseases.