Houstek Josef, Pícková Andrea, Vojtísková Alena, Mrácek Tomás, Pecina Petr, Jesina Pavel
Institute of Physiology and Centre for Applied Genomics, Academy of Sciences of the Czech Republic, Vídenská 1083, CZ 142 20 Prague, Czech Republic.
Biochim Biophys Acta. 2006 Sep-Oct;1757(9-10):1400-5. doi: 10.1016/j.bbabio.2006.04.006. Epub 2006 Apr 19.
ATP synthase is a key enzyme of mitochondrial energy conversion. In mammals, it produces most of cellular ATP. Alteration of ATP synthase biogenesis may cause two types of isolated defects: qualitative when the enzyme is structurally modified and does not function properly, and quantitative when it is present in insufficient amounts. In both cases the cellular energy provision is impaired, and diminished use of mitochondrial DeltamuH+ promotes ROS production by the mitochondrial respiratory chain. The primary genetic defects have so far been localized in mtDNA ATP6 gene and nuclear ATP12 gene, however, involvement of other nuclear genes is highly probable.
ATP合酶是线粒体能量转换的关键酶。在哺乳动物中，它产生细胞内大部分的ATP。ATP合酶生物合成的改变可能导致两种类型的孤立缺陷：当酶在结构上被修饰且功能不正常时为质量缺陷，当酶的量不足时为数量缺陷。在这两种情况下，细胞的能量供应都会受损，线粒体ΔμH+利用减少会促进线粒体呼吸链产生ROS。迄今为止，主要的基因缺陷已定位在线粒体DNA的ATP6基因和核ATP12基因中，然而，其他核基因很可能也参与其中。
