Department of Clinical Laboratories, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine (SJTUSM), Shanghai 200011, China.
FEBS Lett. 2013 Nov 1;587(21):3587-92. doi: 10.1016/j.febslet.2013.08.047. Epub 2013 Sep 27.
Maintaining the functional integrity of mitochondria is crucial for cell function, signal transduction and overall cell activities. Mitochondrial dysfunctions may alter energy metabolism and in many cases are associated with neurological diseases. Recent studies have reported that mutations in dehydrogenase E1 and transketolase domain-containing 1 (DHTKD1), a mitochondrial protein encoding gene, could cause neurological abnormalities. However, the function of DHTKD1 in mitochondria remains unknown. Here, we report a strong correlation of DHTKD1 expression level with ATP production, revealing the fact that DHTKD1 plays a critical role in energy production in mitochondria. Moreover, suppression of DHTKD1 leads to impaired mitochondrial biogenesis and increased reactive oxygen species (ROS), thus leading to retarded cell growth and increased cell apoptosis. These findings demonstrate that DHTKD1 contributes to mitochondrial biogenesis and function maintenance.
维持线粒体的功能完整性对于细胞功能、信号转导和整体细胞活动至关重要。线粒体功能障碍可能会改变能量代谢，并且在许多情况下与神经疾病有关。最近的研究报告称，脱氢酶 E1 和转酮醇酶结构域包含 1 （DHTKD1）的基因突变，一种线粒体蛋白编码基因，可能导致神经异常。然而，DHTKD1 在线粒体中的功能尚不清楚。在这里，我们报告 DHTKD1 表达水平与 ATP 产生之间存在很强的相关性，揭示了 DHTKD1 在能量产生中起着关键作用的事实线粒体。此外，抑制 DHTKD1 会导致线粒体生物发生受损和活性氧（ROS）增加，从而导致细胞生长迟缓，细胞凋亡增加。这些发现表明 DHTKD1 有助于线粒体生物发生和功能维持。
