The mitochondrial genome encodes core subunits of the respiratory chain that drives oxidative phosphorylation and is, therefore, essential for energy conversion. Advances in high-throughput sequencing technologies and cryoelectron microscopy have shed light on the structure and organization of the mitochondrial genome and revealed unique mechanisms of mitochondrial gene regulation. New animal models of impaired mitochondrial protein synthesis have shown how the coordinated regulation of the cytoplasmic and mitochondrial translation machineries ensures the correct assembly of the respiratory chain complexes. These new technologies and disease models are providing a deeper understanding of mitochondrial genome organization and expression and of the diseases caused by impaired energy conversion, including mitochondrial, neurodegenerative, cardiovascular and metabolic diseases. They also provide avenues for the development of treatments for these conditions.

线粒体基因组编码驱动氧化磷酸化的呼吸链的核心亚基，因此对于能量转换至关重要。高通量测序技术和冷冻电子显微镜的进步揭示了线粒体基因组的结构和组织，并揭示了线粒体基因调控的独特机制。线粒体蛋白质合成受损的新动物模型表明细胞质和线粒体翻译机制的协调调节如何确保呼吸链复合物的正确组装。这些新技术和疾病模型提供了对线粒体基因组组织和表达以及能量转换受损引起的疾病（包括线粒体、神经退行性、心血管和代谢疾病。它们还为开发针对这些病症的治疗方法提供了途径。