Metabolism, infection and immunity in inborn errors of metabolism

总结：我的转化研究项目侧重于使用线粒体疾病作为模型系统的免疫代谢。线粒体疾病患者经历危及生命的急性代谢不稳定和器官功能障碍的感染，称为代谢失代偿。我们的目标是了解感染期间的免疫激活如何促进这种病理生理学。这条研究路线也对脓毒症期间的器官功能障碍有影响，这是重症监护病房的一个常见问题。由于感染在线粒体疾病患者中很重要，我们也希望了解线粒体代谢在免疫细胞功能中的作用。许多参与线粒体代谢的酶也在淋巴细胞中表达，并与疾病相关。这些研究不仅有助于了解线粒体疾病患者的免疫功能，而且有助于确定线粒体在正常免疫细胞功能中的作用。

Summary: My translational research program focuses on immunometabolism using mitochondrial disease as a model system. Patients with mitochondrial disease experience life threatening episodes of acute metabolic instability and organ dysfunction brought about by infection termed metabolic decompensation. Our goal is to understand how immune activation during infection contributes to this pathophysiology. This line of research also has implications for organ dysfunction during sepsis, a common problem in the intensive care unit. Since infection is important in patients with mitochondrial disease, we also wish to understand the role of mitochondrial metabolism in immune cell function. Many enzymes involved in mitochondrial metabolism are also expressed in lymphocytes, and have associated diseases. These studies will not only provide insight into immune function in mitochondrial disease patients, but also help define the role of the mitochondria in normal immune cell function.