Koene S, Smeitink J
Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Nijmegen, The Netherlands.
J Intern Med. 2009 Feb;265(2):193-209. doi: 10.1111/j.1365-2796.2008.02058.x.
Research of patients with defects in cellular energy metabolism (mitochondrial disease) has led to a better understanding of mitochondrial biology in health and disease. The obtained knowledge is of increasing importance for physicians of all medical disciplines. It assists in enabling the development of rational treatment strategies for diseases or conditions caused by mitochondrial dysfunction. The still frequently used classical interventions with vitamins or co-factors are only beneficial in some rare mitochondrial disease conditions, like coenzyme Q biosynthesis defects. For that reason alternative strategies to correct disturbed energy metabolism have to be developed. New approaches in this direction include nutrition and exercise therapies, alternative gene expression, enzyme-replacement, scavenging of potentially toxic compounds and modulating cell signalling. The effect of some of these interventions has already been explored in humans whilst others are still at the level of single cell research. We review the state of the art of the development of mitochondrial treatment strategies and discuss what steps need to be taken to efficiently approach the huge burden of disease caused by dysfunctional mitochondria.
对细胞能量代谢缺陷患者（线粒体疾病）的研究有助于更好地理解健康和疾病状态下的线粒体生物学。所获得的知识对所有医学学科的医生来说都愈发重要。它有助于制定针对线粒体功能障碍所引发疾病或病症的合理治疗策略。仍经常使用的维生素或辅助因子等传统干预措施仅在某些罕见的线粒体疾病状况下有益，比如辅酶Q生物合成缺陷。因此，必须开发纠正能量代谢紊乱的替代策略。这方面的新方法包括营养和运动疗法、改变基因表达、酶替代、清除潜在有毒化合物以及调节细胞信号传导。其中一些干预措施的效果已在人体中得到探索，而其他措施仍处于单细胞研究阶段。我们综述了线粒体治疗策略的发展现状，并讨论了需要采取哪些步骤来有效应对线粒体功能障碍所导致的巨大疾病负担。
