PUI RESEARCH-ALCORN-PIVA

PUI 研究-ALCORN-PIVA

• 批准号: 8168112
• 负责人: MARTA PIVA
• 金额: $ 16.17万
• 依托单位: UNIVERSITY OF SOUTHERN MISSISSIPPI
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-09-01 至 2011-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8168112
• 关键词: Biological Preservation; Cell Respiration; Cells; Childhood; Computer Retrieval of Information on Scientific Projects Database; DNA Maintenance; DNA copy number; Diabetes Mellitus; Failure; Funding; Genes; Genetic Screening; Goals; Grant; Institution; Life; Malignant Neoplasms; Mitochondria; Mitochondrial DNA; Mitochondrial Diseases; Mitochondrial Respiratory Chain Deficiencies; Nuclear; Organelles; Organism; Pathology; Patients; Phase; Play; Proteins; Research; Research Personnel; Resources; Role; Saccharomyces cerevisiae; Source; Syndrome; United States National Institutes of Health; age related; infancy; mitochondrial dysfunction

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The long term goal of this project is to understand the mechanisms involved in mitochondrial DNA (mtDNA) maintenance. The overall goal of the present phase is to determine the role played by YGR150c in the preservation of mtDNA. Mitochondrial dysfunction has been long implicated in a number of age-related pathologies, cancer and diabetes. One of the reasons for mitochondrial failure is the damage to, and/or partial or total loss of mtDNA. The loss of the mtDNA renders the cell unable to perform aerobic respiration. mtDNA depletion syndromes (MDS) are a heterogeneous group of severe mitochondrial disorders of infancy and childhood, characterized by a profound reduction in mtDNA copy number. MDS is considered a prevalent cause of multiple respiratory chain deficiency in pediatric patients. However, current genetic screenings relate only to genes involved in maintaining the dNTP pool in mitochondria and explain only 10 % of the cases. The integrity of mtDNA is mainly maintained by nuclear gene products. However, many of the mechanisms that contribute to the preservation of mtDNA are still unclear or unknown. Saccharomyces cerevisiae is an ideal organism with which to study mitochondrial function because it can live without this organelle.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 该项目的长期目标是了解线粒体DNA（mtDNA）维护中涉及的机制。本阶段的总体目标是确定YGR150C在保存mtDNA中所起的作用。线粒体功能障碍长期以来一直与许多与年龄相关的病理，癌症和糖尿病有关。线粒体衰竭的原因之一是对mtDNA的损害和/或部分或总损失。 mtDNA的丧失使细胞无法进行有氧呼吸。 mtDNA耗竭综合征（MDS）是婴儿期和儿童期严重的线粒体疾病的异质群，其特征是mtDNA拷贝数大幅降低。 MDS被认为是小儿患者多次呼吸链缺乏症的普遍原因。但是，当前的遗传筛选仅与维持线粒体中DNTP池有关的基因仅与10％的病例有关。 mtDNA的完整性主要由核基因产物维持。但是，许多有助于保存mtDNA的机制仍然不清楚或未知。 酿酒酵母是一种理想的生物体，可以研究线粒体功能，因为它可以在没有该细胞器的情况下生存。