Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Italy.
Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Italy.
Arch Biochem Biophys. 2021 Jan 15;697:108689. doi: 10.1016/j.abb.2020.108689. Epub 2020 Nov 20.
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遗传性代谢疾病，由于氧化磷酸化缺陷所致。它们是由核或线粒体 DNA 中涉及线粒体功能的基因的突变引起的。“线粒体 DNA 遗传规则”的特殊性部分解释了明显的表型变异性、基因型-表型相关性的复杂性和遗传咨询的挑战。新的大规模基因测序技术改变了诊断方法，提高了与线粒体 DNA 相关综合征的诊断水平，并且通常避免了组织活检的需要。在这里，我们介绍了与线粒体 DNA 突变相关的最常见表型，并介绍了诊断和治疗方面的最新进展。
