Department of Medical, Surgical, Neurological, Metabolic Sciences, and Aging, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
Institute of Bioscience and BioResources (IBBR), National Research Council (CNR), Naples, Italy.
J Cell Physiol. 2019 Jun;234(6):9233-9246. doi: 10.1002/jcp.27602. Epub 2018 Oct 26.
Mitochondrial dysfunction seems to play a fundamental role in the pathogenesis of neurodegeneration in Huntington's disease (HD). We assessed possible neuroprotective actions of meldonium, a small molecule affecting mitochondrial fuel metabolism, in in vitro and in vivo HD models. We found that meldonium was able to prevent cytotoxicity induced by serum deprivation, to reduce the accumulation of mutated huntingtin (mHtt) aggregates, and to upregulate the expression of peroxisome proliferator-activated receptor γ coactivator 1α (PGC-1α) in mHTT-expressing cells. The PGC-1α increase was accompanied by the increment of mitochondrial mass and by the rebalancing of mitochondrial dynamics with a promotion of the mitochondrial fusion. Meldonium-induced PGC-1α significantly alleviated motor dysfunction and prolonged the survival of a transgenic HD Drosophila model in which mHtt expression in the nervous system led to progressive motor performance deficits. Our study strongly suggests that PGC-1α, as a master coregulator of mitochondrial biogenesis, energy homeostasis, and antioxidant defense, is a potential therapeutic target in HD.
线粒体功能障碍似乎在亨廷顿病 (HD) 的神经退行性变发病机制中起核心作用。我们评估了米屈肼(一种影响线粒体燃料代谢的小分子)在体外和体内 HD 模型中的可能神经保护作用。我们发现米屈肼能够预防血清剥夺诱导的细胞毒性,减少突变型亨廷顿蛋白(mHtt)聚集体的积累,并上调 mHTT 表达细胞中过氧化物酶体增殖物激活受体 γ 共激活因子 1α(PGC-1α)的表达。PGC-1α 的增加伴随着线粒体质量的增加以及线粒体动力学的再平衡,促进了线粒体融合。米屈肼诱导的 PGC-1α 显著缓解了运动功能障碍,并延长了转基因 HD 果蝇模型的存活时间,该模型中 mHtt 在神经系统中的表达导致进行性运动表现缺陷。我们的研究强烈表明,PGC-1α 作为线粒体生物发生、能量稳态和抗氧化防御的主要核心调节剂,是 HD 的一个潜在治疗靶点。