Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK.
Lancet. 2012 May 12;379(9828):1825-34. doi: 10.1016/S0140-6736(11)61305-6. Epub 2012 Apr 5.
Mitochondria have a crucial role in cellular bioenergetics and apoptosis, and thus are important to support cell function and in determination of cell death pathways. Inherited mitochondrial diseases can be caused by mutations of mitochondrial DNA or of nuclear genes that encode mitochondrial proteins. Although many mitochondrial disorders are multisystemic, some are tissue specific--eg, optic neuropathy, sensorineural deafness, and type 2 diabetes mellitus. In the past few years, several disorders have been associated with mutations of nuclear genes responsible for mitochondrial DNA maintenance and function, and the potential contribution of mitochondrial abnormalities to progressive neurodegenerative diseases such as Parkinson's disease and Alzheimer's disease has been recognised. The process of mitochondrial fission-fusion has become a focus of attention in human disease. Importantly, the mitochondrion is now a target for therapeutic interventions that encompass small molecules, transcriptional regulation, and genetic manipulation, offering opportunities to treat a diverse range of diseases.
线粒体在细胞生物能量学和细胞凋亡中起着至关重要的作用，因此对于支持细胞功能和决定细胞死亡途径非常重要。遗传性线粒体疾病可以由线粒体 DNA 或编码线粒体蛋白的核基因突变引起。尽管许多线粒体疾病是多系统的，但有些是组织特异性的，例如视神经病变、感觉神经性耳聋和 2 型糖尿病。在过去几年中，已有几种疾病与负责线粒体 DNA 维持和功能的核基因突变相关联，并且已经认识到线粒体异常对帕金森病和阿尔茨海默病等进行性神经退行性疾病的潜在贡献。线粒体分裂-融合过程已成为人类疾病关注的焦点。重要的是，线粒体现在是治疗干预的目标，包括小分子、转录调控和基因操作，为治疗各种疾病提供了机会。
