Post-transcriptional control of gene expression in human mitochondria

身体中的所有细胞都需要能量来运作，线粒体形成所有细胞的亚室，负责将食物产品的分解转化为可用的能量形式。出于这个原因，至关重要的是，这个细胞器是健康的，可以正常工作。已经确定了一组疾病，当这个细胞器停止正常工作时就会出现。这些疾病可能是由线粒体DNA编码的蛋白质或在线粒体中起作用但在细胞核中编码的蛋白质的缺陷引起的。在线粒体疾病患者中，大约三分之一的人受到这一特定疾病亚组的影响，更常见的是儿童。不幸的是，我们还没有完全了解这种细胞器如何正常运作，或者哪些蛋白质对维持正常活动至关重要。通过分析来自患有线粒体疾病的患者的细胞系，我们可以使用各种测定来确定细胞器代谢的哪个方面受到了影响。我们还将使用特定的技术来识别突变基因，这将使我们能够在培养的细胞中替换它。通过这种方式，我们将能够大大增加我们对人类线粒体基因表达的基本机制以及这在一大类线粒体疾病中如何受到影响的理解。

All cells in the body require energy to function and the mitochondria form the subcompartment of all cells that is responsible for converting breakdown of food products into a usable energy form. For this reason it is critical that this organelle is healthy and can function properly. A group of diseases have been identified that arise when this organelle ceases to function correctly. These diseases can arise from a defect in a protein that is encoded on mitochondrial DNA or a protein that functions in the mitochondrion but that is encoded in the nucleus. Amongst the group of patients with mitochondrial disease, approximately one-third are affected by this specific subgroup of diseases and more commonly are children. Unfortunately we do not yet fully understand how this organelle behaves normally or which proteins are critical to maintain normal activity. By analysing cell lines derived from patients who have mitochondrial disease we can use various assays to identify which aspect of the organelle metabolism has been affected. We will also use specific techniques that should allow identification of the mutated gene, which will allow us to replace this in the cells in culture. In this way we will be able to considerably increase our understanding of both the basic mechanisms of mitochondrial gene expression in humans and also how this is affected in a large class of mitochondrial diseases.