Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA; Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530002, China.
J Genet Genomics. 2018 Feb 20;45(2):71-77. doi: 10.1016/j.jgg.2017.11.008. Epub 2018 Feb 14.
The mitochondrial organelle is crucial to the energy metabolism of the eukaryotic cell. Defects in mitochondrial function lie at the core of a wide range of disorders, including both rare primary mitochondrial disorders and more common conditions such as Parkinson's disease and diabetes. Inherited defects in mitochondrial function can be found in both the nuclear genome and the mitochondrial genome, with the latter creating unique challenges in the treatment and understanding of disease passed on through the mitochondrial genome. In this review, we will describe the limited treatment regimens currently used to alleviate primary mitochondrial disorders, as well as the potential for emerging technologies (in particular, those involving direct manipulation of the mitochondrial genome) to more decisively treat this class of disease. We will also emphasize the critical parallels between primary mitochondrial disorders and more common ailments such as cancer and diabetes.
线粒体细胞器对于真核细胞的能量代谢至关重要。线粒体功能的缺陷是广泛疾病的核心，包括罕见的原发性线粒体疾病和更常见的疾病，如帕金森病和糖尿病。线粒体功能的遗传缺陷既可以存在于核基因组中，也可以存在于线粒体基因组中，后者在通过线粒体基因组传递的疾病的治疗和理解方面带来了独特的挑战。在这篇综述中，我们将描述目前用于缓解原发性线粒体疾病的有限治疗方案，以及新兴技术（特别是那些涉及直接操纵线粒体基因组的技术）在更果断地治疗这类疾病方面的潜力。我们还将强调原发性线粒体疾病与更常见的疾病（如癌症和糖尿病）之间的关键相似之处。
