School of Life and Environmental Sciences, Faculty of Science, Engineering and Built Environment, Deakin University, Geelong 3216, Australia.
Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria 3002, Australia.
Int J Mol Sci. 2020 Mar 20;21(6):2139. doi: 10.3390/ijms21062139.
The lack of effective treatments for mitochondrial disease has seen the development of new approaches, including those that aim to stimulate mitochondrial biogenesis to boost ATP generation above a critical disease threshold. Here, we examine the effects of the peroxisome proliferator-activated receptor γ (PPARγ) activator pioglitazone (PioG), in combination with deoxyribonucleosides (dNs), on mitochondrial biogenesis in cybrid cells containing >90% of the m.3243A>G mutation associated with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). PioG + dNs combination treatment increased mtDNA copy number and mitochondrial mass in both control (CON) and m.3243A>G (MUT) cybrids, with no adverse effects on cell proliferation. PioG + dNs also increased mtDNA-encoded transcripts in CON cybrids, but had the opposite effect in MUT cybrids, reducing the already elevated transcript levels. Steady-state levels of mature oxidative phosphorylation (OXPHOS) protein complexes were increased by PioG + dNs treatment in CON cybrids, but were unchanged in MUT cybrids. However, treatment was able to significantly increase maximal mitochondrial oxygen consumption rates and cell respiratory control ratios in both CON and MUT cybrids. Overall, these findings highlight the ability of PioG + dNs to improve mitochondrial respiratory function in cybrid cells containing the m.3243A>G MELAS mutation, as well as their potential for development into novel therapies to treat mitochondrial disease.
由于缺乏针对线粒体疾病的有效治疗方法,人们开发了新的方法,包括旨在刺激线粒体生物发生以提高 ATP 生成量超过临界疾病阈值的方法。在这里,我们研究了过氧化物酶体增殖物激活受体 γ(PPARγ)激活剂吡格列酮(PioG)与脱氧核糖核苷酸(dNs)联合应用对含有与线粒体脑肌病、乳酸酸中毒和卒中样发作(MELAS)相关的 m.3243A>G 突变的>90%的杂种细胞中线粒体生物发生的影响。PioG + dNs 联合治疗增加了对照(CON)和 m.3243A>G(MUT)杂种细胞中的 mtDNA 拷贝数和线粒体质量,对细胞增殖没有不良影响。PioG + dNs 还增加了 CON 杂种细胞中线粒体 DNA 编码的转录物,但在 MUT 杂种细胞中产生相反的效果,降低了已经升高的转录物水平。在 CON 杂种细胞中,PioG + dNs 处理增加了成熟氧化磷酸化(OXPHOS)蛋白复合物的稳态水平,但在 MUT 杂种细胞中没有变化。然而,该治疗能够显著增加 CON 和 MUT 杂种细胞中的最大线粒体耗氧量和细胞呼吸控制比。总的来说,这些发现强调了 PioG + dNs 改善含有 m.3243A>G MELAS 突变的杂种细胞中线粒体呼吸功能的能力,以及它们作为治疗线粒体疾病的新型治疗方法的潜力。