线粒体DNA突变与骨髓增生异常综合征

骨髓增生异常综合征是以造血干细胞的异常克隆性增生、血细胞减少、骨髓出现病态造血为特征的一类疾病。最近的研究发现：环形铁粒幼细胞作为MDS的一个重要病态造血现象，可存在于各型MDS中，并且具有明显的异质性。这种克隆内的异质性现象与线粒体DNA突变有关，线粒体DNA突变主要引起呼吸链异常，继而导致多种病理生理改变，在MDS的发病机制中可能有重要的作用。

Relationship of Mitochondrial DNA Mutation with Myelodysplastic Syndromes-Review

Myelodysplastic syndromes are refered to as a group of diseases characterized by abnormal clonal proliferation of hematopoietic stem cells with pancytopenia and dysplasia. Recently,it has been documented that ringed sideroblasts are not only confined to the refractory anemia with ring sideroblast(RARS)subtype of MDS,but also contribute to numerous underlying MDS pathophysiological processes as a significant feature of dysplasia. This clonal heterogeneity suggested a pathogenetic role of mitochondrial DNA mutation. Many studies have shown that mitochondrial respiratory chain defects resulting from mutation of mitochondrial DNA may lead to multiple pathophysiologic changes, and may impact on the pathogeneses of MDS.