Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Division of Nephrology, Endocrinology and Vascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
PLoS One. 2020 Dec 2;15(12):e0231064. doi: 10.1371/journal.pone.0231064. eCollection 2020.
Sporadic inclusion body myositis (sIBM) is the most common idiopathic inflammatory myopathy, and several reports have suggested that mitochondrial abnormalities are involved in its etiology. We recruited 9 sIBM patients and found significant histological changes and an elevation of growth differential factor 15 (GDF15), a marker of mitochondrial disease, strongly suggesting the involvement of mitochondrial dysfunction. Bioenergetic analysis of sIBM patient myoblasts revealed impaired mitochondrial function. Decreased ATP production, reduced mitochondrial size and reduced mitochondrial dynamics were also observed in sIBM myoblasts. Cell vulnerability to oxidative stress also suggested the existence of mitochondrial dysfunction. Mitochonic acid-5 (MA-5) increased the cellular ATP level, reduced mitochondrial ROS, and provided protection against sIBM myoblast death. MA-5 also improved the survival of sIBM skin fibroblasts as well as mitochondrial morphology and dynamics in these cells. The reduction in the gene expression levels of Opa1 and Drp1 was also reversed by MA-5, suggesting the modification of the fusion/fission process. These data suggest that MA-5 may provide an alternative therapeutic strategy for treating not only mitochondrial diseases but also sIBM.
散发性包涵体肌炎(sIBM)是最常见的特发性炎性肌病,有几项报告表明线粒体异常与该病的病因有关。我们招募了 9 名 sIBM 患者,发现存在明显的组织学变化和生长差异因子 15(GDF15)升高,这是线粒体疾病的标志物,强烈提示存在线粒体功能障碍。对 sIBM 患者成肌细胞的生物能量分析显示线粒体功能受损。sIBM 成肌细胞中还观察到 ATP 产生减少、线粒体体积减小和线粒体动力学降低。细胞对氧化应激的脆弱性也表明存在线粒体功能障碍。线粒体酸 5(MA-5)增加了细胞内的 ATP 水平,减少了线粒体 ROS,并为 sIBM 成肌细胞死亡提供了保护。MA-5 还改善了这些细胞中的 sIBM 皮肤成纤维细胞的存活率以及线粒体形态和动力学。MA-5 还逆转了 Opa1 和 Drp1 基因表达水平的降低,表明融合/裂变过程得到了修饰。这些数据表明,MA-5 可能为治疗不仅是线粒体疾病而且是 sIBM 提供了一种替代的治疗策略。