Gattermann N
Department of Hematology, Oncology, and Clinical Immunology, Heinrich-Heine-University, Düsseldorf, Germany.
Leuk Res. 2000 Feb;24(2):141-51. doi: 10.1016/s0145-2126(99)00160-5.
A primary mitochondrial defect may be pivotal in the pathogenesis of acquired idiopathic sideroblastic anemia (AISA). The mitochondrial respiratory chain is involved in mitochondrial iron uptake and supply of ferrous iron (Fe2+) for heme synthesis. Mitochondrial DNA (mtDNA) comes into play because several subunits of the respiratory chain are encoded by the mitochondrial genome. We have identified heteroplasmic mutations of mtDNA, which may not only impair mitochondrial iron metabolism and heme synthesis, but through impairment of mitochondrial energy production may have much broader implications for MDS pathogenesis. For example, increased apoptosis and genetic instability may be phenomena linked to mitochondrial dysfunction.
原发性线粒体缺陷可能在获得性特发性铁粒幼细胞贫血（AISA）的发病机制中起关键作用。线粒体呼吸链参与线粒体铁摄取以及为血红素合成提供亚铁（Fe2+）。线粒体DNA（mtDNA）发挥作用，因为呼吸链的几个亚基由线粒体基因组编码。我们已经鉴定出mtDNA的异质性突变，这些突变不仅可能损害线粒体铁代谢和血红素合成，而且通过损害线粒体能量产生可能对MDS发病机制有更广泛的影响。例如，凋亡增加和遗传不稳定性可能是与线粒体功能障碍相关的现象。
