Mitochondrial Biochemistry: From Mechanisms to Disease

线粒体生物化学：从机制到疾病

• 批准号: 10372005
• 负责人: Jared P Rutter
• 金额: $ 38.13万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 财政年份: 2019
• 资助国家: 美国
• 起止时间: 2019-04-01 至 2024-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10372005
• 关键词: Affect; Biochemistry; Biology; Complex; Defect; Disease; Functional disorder; Future; Genes; Goals; Human; Laboratories; Metabolic; Mitochondria; Mitochondrial Proteins; Molecular; Physiological; Physiology; Play; Process; Protein Family; Proteins; Quality Control; Regulation; Role; Site; Source; age related; human disease; programs; Affect; Biochemistry; Biology; Complex; Defect; Disease; Functional disorder; Future; Genes; Goals; Human; Laboratories; Metabolic; Mitochondria; Mitochondrial Proteins; Molecular; Physiological; Physiology; Play; Process; Protein Family; Proteins; Quality Control; Regulation; Role; Site; Source; age related; human disease; programs

Project Summary/Abstract Mitochondria are the major source of cellular energy and are also one of the major sites of defects leading to age-related disorders. In spite of the obvious importance, roughly 1/3 of the proteins found there have no know function. One major goal of the Rutter laboratory is to define the functions of a subset of these proteins, particularly those that are highly evolutionarily conserved across eukaryotic species. We have begun this process and have defined the molecular functions of ten mitochondrial protein families. These have included important factors for OXPHOS complex assembly, mitochondrial quality control, metabolic regulation and others. These discoveries have enabled our laboratory and many others to develop new understanding of normal human physiology and disease pathophysiology, including the discovery of two new human disease genes. The proposed future activities are a combination of continuing our efforts to define the functions of previously unstudied mitochondrial proteins and leveraging our previous discoveries toward a better understanding of mitochondrial biology and its physiological manifestations.

项目摘要/摘要 线粒体是细胞能的主要来源，也是导致缺陷的主要部位之一 与年龄有关的疾病。尽管很重要，但大约有1/3的蛋白质发现没有 知道功能。 Rutter实验室的主要目标之一是定义这些蛋白质子集的功能，即 特别是那些在真核物种中高度进化保守的。我们已经开始了 过程并定义了十个线粒体蛋白家族的分子功能。这些包括 Oxphos复合组装，线粒体质量控制，代谢调节和 其他的。这些发现使我们的实验室和许多其他发现能够发展出对 正常的人类生理和疾病病理生理学，包括发现两种新人类疾病 基因。拟议的未来活动是继续我们努力定义功能的结合 以前未研究的线粒体蛋白质，并利用我们以前的发现朝着更好的发现 了解线粒体生物学及其生理表现。