Franco Leticia V R, Bremner Luca, Barros Mario H
Department of Biological Sciences, Columbia University, New York, NY 10027, USA.
Department of Microbiology, Institute of Biomedical Sciences, Universidade de Sao Paulo, Sao Paulo 05508-900, Brazil.
Life (Basel). 2020 Nov 23;10(11):304. doi: 10.3390/life10110304.
The ease with which the unicellular yeast can be manipulated genetically and biochemically has established this organism as a good model for the study of human mitochondrial diseases. The combined use of biochemical and molecular genetic tools has been instrumental in elucidating the functions of numerous yeast nuclear gene products with human homologs that affect a large number of metabolic and biological processes, including those housed in mitochondria. These include structural and catalytic subunits of enzymes and protein factors that impinge on the biogenesis of the respiratory chain. This article will review what is currently known about the genetics and clinical phenotypes of mitochondrial diseases of the respiratory chain and ATP synthase, with special emphasis on the contribution of information gained from mutants with mutations in nuclear genes that impair mitochondrial respiration. Our intent is to provide the yeast mitochondrial specialist with basic knowledge of human mitochondrial pathologies and the human specialist with information on how genes that directly and indirectly affect respiration were identified and characterized in yeast.
单细胞酵母在遗传和生化操作上的简便性，使其成为研究人类线粒体疾病的良好模型。生化和分子遗传工具的联合使用，对于阐明众多与人类同源的酵母核基因产物的功能起到了重要作用，这些基因产物影响大量代谢和生物过程，包括线粒体中的过程。其中包括影响呼吸链生物合成的酶的结构和催化亚基以及蛋白质因子。本文将综述目前关于呼吸链和ATP合酶线粒体疾病的遗传学和临床表型的已知信息，特别强调从核基因发生突变而损害线粒体呼吸的突变体中获得的信息所做的贡献。我们的目的是为酵母线粒体专家提供人类线粒体病理学的基本知识，为人类专家提供关于如何在酵母中鉴定和表征直接和间接影响呼吸的基因的信息。
