The University of Queensland, Queensland Brain Institute, Clem Jones Centre for Ageing Dementia Research, Brisbane, Australia.
The University of Queensland, Queensland Brain Institute, Clem Jones Centre for Ageing Dementia Research, Brisbane, Australia.
Trends Cell Biol. 2019 Mar;29(3):227-240. doi: 10.1016/j.tcb.2018.11.004. Epub 2018 Nov 30.
Mitochondrial genome (mitochondrial DNA, mtDNA) lesions that unbalance bioenergetic and oxidative outputs are an important cause of human disease. A major impediment in our understanding of the pathophysiology of mitochondrial disorders is the complexity with which mtDNA mutations are spatiotemporally distributed and managed within individual cells, tissues, and organs. Unlike the comparatively static nuclear genome, accumulating evidence highlights the variability, dynamism, and modifiability of the mtDNA nucleotide sequence between individual cells over time. In this review, we summarize and discuss the impact of mtDNA defects on disease within the context of a mosaic and shifting mutational landscape.
线粒体基因组(线粒体 DNA,mtDNA)损伤导致生物能量和氧化输出失衡,是人类疾病的重要原因。我们对线粒体疾病病理生理学的理解主要受到阻碍,因为 mtDNA 突变在个体细胞、组织和器官内的时空分布和管理非常复杂。与相对静态的核基因组不同,越来越多的证据强调了 mtDNA 核苷酸序列在个体细胞之间随时间变化的可变性、动态性和可修饰性。在这篇综述中,我们总结并讨论了在镶嵌和不断变化的突变景观背景下 mtDNA 缺陷对疾病的影响。