Gene Discovery and Functional Studies to Reveal Mechanisms Underlying Mitochondrial Respiratory Chain Disorders.

基因发现和功能研究揭示线粒体呼吸链疾病的机制。

• 批准号: nhmrc : 1026891
• 负责人: A/Pr Sandra Cooper
• 金额: $ 25.43万
• 依托单位: The University of Sydney
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2012
• 资助国家: 澳大利亚
• 起止时间: 2012-01-01 至 2015-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/gene-discovery-functional-chain-disorders/110523
• 关键词: Gene; Discovery; Functional; Studies; Reveal

Mitochondrial respiratory chain disorders are a devastating group of disorders, potentially affecting any organ of the body, with no effective therapies currently available. The majority of these disorders have a childhood onset and the genetic basis for most of them is unknown. Identification of the genes responsible for these disorders in specific families would greatly improve the accuracy and usefulness of genetic counselling, and an understanding of their biology may assist the development of effective therapies.

线粒体呼吸链疾病是一组破坏性的疾病，可能影响身体的任何器官，目前没有有效的治疗方法。这些疾病中的大多数在儿童期发病，其中大多数的遗传基础是未知的。在特定家族中鉴定出导致这些疾病的基因将大大提高遗传咨询的准确性和实用性，而对其生物学的了解可能有助于开发有效的治疗方法。