Department of Pharmacology, University of California, San Diego, La Jolla, CA, USA.
EMBO Mol Med. 2013 Jun;5(6):904-18. doi: 10.1002/emmm.201201429. Epub 2013 May 24.
Miner1 is a redox-active 2Fe2S cluster protein. Mutations in Miner1 result in Wolfram Syndrome, a metabolic disease associated with diabetes, blindness, deafness, and a shortened lifespan. Embryonic fibroblasts from Miner1(-/-) mice displayed ER stress and showed hallmarks of the unfolded protein response. In addition, loss of Miner1 caused a depletion of ER Ca(2+) stores, a dramatic increase in mitochondrial Ca(2+) load, increased reactive oxygen and nitrogen species, an increase in the GSSG/GSH and NAD(+)/NADH ratios, and an increase in the ADP/ATP ratio consistent with enhanced ATP utilization. Furthermore, mitochondria in fibroblasts lacking Miner1 displayed ultrastructural alterations, such as increased cristae density and punctate morphology, and an increase in O2 consumption. Treatment with the sulphydryl anti-oxidant N-acetylcysteine reversed the abnormalities in the Miner1 deficient cells, suggesting that sulphydryl reducing agents should be explored as a treatment for this rare genetic disease.
Miner1 是一种氧化还原活性的 2Fe2S 簇蛋白。Miner1 的突变会导致尿崩症,这是一种与糖尿病、失明、失聪和寿命缩短有关的代谢疾病。来自 Miner1(-/-) 小鼠的胚胎成纤维细胞显示内质网应激,并表现出未折叠蛋白反应的特征。此外,Miner1 的缺失导致内质网 Ca(2+)储存耗尽,线粒体 Ca(2+)负荷急剧增加,活性氧和氮物种增加,GSSG/GSH 和 NAD(+)/NADH 比值增加,以及 ADP/ATP 比值增加,表明 ATP 利用增强。此外,缺乏 Miner1 的成纤维细胞中的线粒体显示出超微结构改变,例如嵴密度增加和点状形态,以及 O2 消耗增加。用巯基抗氧化剂 N-乙酰半胱氨酸处理可逆转 Miner1 缺陷细胞的异常,表明应探索巯基还原剂作为治疗这种罕见遗传疾病的方法。