Department of Biochemistry, Molecular and Cellular Biology, Georgetown University Medical Center, Washington, DC, USA.
Blood. 2010 Jan 28;115(4):860-9. doi: 10.1182/blood-2009-09-243105. Epub 2009 Nov 25.
Mammalian ferrochelatase, the terminal enzyme in the heme biosynthetic pathway, possesses an iron-sulfur [2Fe-2S] cluster that does not participate in catalysis. We investigated ferrochelatase expression in iron-deficient erythropoietic tissues of mice lacking iron regulatory protein 2, in iron-deficient murine erythroleukemia cells, and in human patients with ISCU myopathy. Ferrochelatase activity and protein levels were dramatically decreased in Irp2(-/-) spleens, whereas ferrochelatase mRNA levels were increased, demonstrating posttranscriptional regulation of ferrochelatase in vivo. Translation of ferrochelatase mRNA was unchanged in iron-depleted murine erythroleukemia cells, and the stability of mature ferrochelatase protein was also unaffected. However, the stability of newly formed ferrochelatase protein was dramatically decreased during iron deficiency. Ferrochelatase was also severely depleted in muscle biopsies and cultured myoblasts from patients with ISCU myopathy, a disease caused by deficiency of a scaffold protein required for Fe-S cluster assembly. Together, these data suggest that decreased Fe-S cluster availability because of cellular iron depletion or impaired Fe-S cluster assembly causes reduced maturation and stabilization of apo-ferrochelatase, providing a direct link between Fe-S biogenesis and completion of heme biosynthesis. We propose that decreased heme biosynthesis resulting from impaired Fe-S cluster assembly can contribute to the pathogenesis of diseases caused by defective Fe-S cluster biogenesis.
哺乳动物亚铁螯合酶是血红素生物合成途径中的末端酶,它具有一个不参与催化的铁硫 [2Fe-2S] 簇。我们研究了缺乏铁调节蛋白 2 的缺铁性红细胞生成组织、缺铁性小鼠红白血病细胞和 ISCU 肌病患者中的亚铁螯合酶表达。Irp2(-/-) 脾脏中的亚铁螯合酶活性和蛋白水平显著降低,而亚铁螯合酶 mRNA 水平升高,表明体内亚铁螯合酶的转录后调节。缺铁时,小鼠红白血病细胞中亚铁螯合酶 mRNA 的翻译没有变化,成熟亚铁螯合酶蛋白的稳定性也不受影响。然而,在缺铁期间,新形成的亚铁螯合酶蛋白的稳定性显著降低。ISCU 肌病患者的肌肉活检和培养的成肌细胞中也严重缺乏亚铁螯合酶,ISCU 肌病是一种由组装 Fe-S 簇所需支架蛋白缺乏引起的疾病。这些数据表明,由于细胞铁耗竭或 Fe-S 簇组装受损导致 Fe-S 簇可用性降低,会导致脱辅基亚铁螯合酶的成熟和稳定性降低,为 Fe-S 生物发生和血红素生物合成的完成之间提供了直接联系。我们提出,由于 Fe-S 簇组装受损导致的血红素生物合成减少可能导致由 Fe-S 簇生物发生缺陷引起的疾病的发病机制。