School of Biological Sciences, Monash University, Melbourne, Victoria, Australia.
Bioessays. 2021 Jun;43(6):e2000265. doi: 10.1002/bies.202000265. Epub 2021 Mar 24.
Much research has focused on the effects of pathogenic mitochondrial mutations on health. Notwithstanding, the mechanisms regulating the link between these mutations and their effects remain elusive in several cases. Here, we propose that certain mitochondrial mutations may disrupt function of a set of mitochondrial-transcribed small RNAs, perturbing communication between mitochondria and nucleus, leading to disease. Our hypothesis synthesises two lines of supporting evidence. First, several mitochondrial mutations cannot be directly linked to effects on energy production or protein synthesis. Second, emerging studies have described the existence of small RNAs encoded by the mitochondria and proposed their involvement in RNA interference. We present a roadmap to testing this hypothesis.
许多研究都集中在致病性线粒体突变对健康的影响上。尽管如此，在许多情况下，调节这些突变与其影响之间联系的机制仍然难以捉摸。在这里，我们提出某些线粒体突变可能会破坏一组线粒体转录的小 RNA 的功能，扰乱线粒体与细胞核之间的通讯，从而导致疾病。我们的假设综合了两条支持性证据。首先，一些线粒体突变不能直接与能量产生或蛋白质合成的影响联系起来。其次，新兴的研究已经描述了由线粒体编码的小 RNA 的存在，并提出了它们在 RNA 干扰中的参与。我们提出了一个测试该假设的路线图。
