Mitochondrial diseases are the most common inheritable metabolic diseases, due to defects in oxidative phosphorylation. They are caused by mutations of nuclear or mitochondrial DNA in genes involved in mitochondrial function. The peculiarity of “mitochondrial DNA genetics rules” in part explains the marked phenotypic variability, the complexity of genotype-phenotype correlations and the challenge of genetic counseling. The new massive genetic sequencing technologies have changed the diagnostic approach, enhancing mitochondrial DNA-related syndromes diagnosis and often avoiding the need of a tissue biopsy.

Here we present the most common phenotypes associated with a mitochondrial DNA mutation with the recent advances in diagnosis and in therapeutic perspectives.

线粒体疾病是最常见的可遗传代谢疾病，归因于氧化磷酸化的缺陷。它们是由与线粒体功能有关的基因中的核或线粒体DNA突变引起的。“线粒体DNA遗传学规则”的特殊性在一定程度上解释了明显的表型变异性，基因型-表型相关性的复杂性以及遗传咨询的挑战。新的大规模基因测序技术改变了诊断方法，增强了线粒体DNA相关综合征的诊断，并通常避免了组织活检的需要。

在这里，我们介绍与线粒体DNA突变相关的最常见的表型，以及在诊断和治疗方面的最新进展。