Institute of Biological Bases of Animal Production, University of Life Sciences in Lublin, Akademicka 13, 20-950 Lublin, Poland.
Mitochondrion. 2022 Mar;63:72-84. doi: 10.1016/j.mito.2022.02.001. Epub 2022 Feb 5.
Currently, the issue of the aetiology of mitochondrial diseases resulting from mitochondrial DNA (mtDNA) defects is underestimated. Genetic research is mostly focused on alterations in the nuclear genome (nDNA), and its impact on disease development as well as further health consequences without considering mtDNA abnormalities. However, in the case of energy-dependent diseases, it is important to understand the bioenergetic pathophysiology and its relation with mtDNA changes. In the current animal research, there is limited data about mtDNA defects and their association with the development of bioenergetic diseases in the domestic dog (Canis lupus familiaris) in contrast to human medicine, where mitochondrial genetics research has recently increased. Molecular findings about mtDNA indicate that improper functioning of mitochondria resulting from genetic defects of mtDNA has a severe impact on cells and tissues, especially those that are heavily dependent on oxidative metabolism such as the brain, skeletal and cardiac muscles and, consequently, the whole organism. The aim of this paper is to highlight the role of defects of mitochondria and mtDNA on the development and course of different diseases in the domestic dog. The field of canine mitochondrial genetics and genomics is definitely inexhaustible and it is worth drawing attention to the importance and consequences of the mitochondrial genome alterations. This review collects scientific data on mitochondrial DNA with special regard to the structure, features of canine mtDNA, and abnormalities in the mitochondrial genome and their association with the course and development of diseases, including mitochondrial myopathies, encephalopathies, and tumours.
目前,线粒体疾病的病因学问题,即线粒体 DNA(mtDNA)缺陷,被低估了。遗传研究主要集中在核基因组(nDNA)的改变上,以及其对疾病发展和进一步健康后果的影响,而没有考虑到 mtDNA 异常。然而,在依赖能量的疾病中,了解生物能量病理生理学及其与 mtDNA 变化的关系非常重要。在目前的动物研究中,与人类医学相比,关于 mtDNA 缺陷及其与犬(Canis lupus familiaris)生物能量疾病发展的关联的数据非常有限,而线粒体遗传学研究最近在人类医学中有所增加。关于 mtDNA 的分子发现表明,mtDNA 遗传缺陷导致的线粒体功能障碍对细胞和组织有严重影响,特别是对氧化代谢高度依赖的组织,如大脑、骨骼肌和心肌,进而对整个机体有严重影响。本文旨在强调线粒体和 mtDNA 缺陷在犬不同疾病的发展和病程中的作用。犬线粒体遗传学和基因组学领域无疑是无穷无尽的,值得关注线粒体基因组改变的重要性和后果。本综述收集了有关 mtDNA 的科学数据,特别关注了线粒体 DNA 的结构、犬 mtDNA 的特征、线粒体基因组的异常及其与疾病的病程和发展的关联,包括线粒体肌病、脑病和肿瘤。