Delineating the Relationship between Iron and Peroxisomal Disorders: The Role of the Peroxisomal Enzyme GNPAT in Iron-Overload Disorders

描述铁和过氧化物酶体疾病之间的关系：过氧化物酶体酶 GNPAT 在铁过载疾病中的作用

• 批准号: nhmrc : 1082224
• 负责人: Dr Daniel Wallace
• 金额: $ 46.73万
• 依托单位: Queensland University of Technology
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2015
• 资助国家: 澳大利亚
• 起止时间: 2015-01-01 至 2018-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/delineating-relationship-iron-overload-disorders/518860
• 关键词: Delineating; Relationship; between; Iron; Peroxisomal

Hereditary haemochromatosis is one of the most common genetic disorders in humans, affecting 1 in 200 Australians. We have identified a change in a peroxisomal gene which may affect iron levels in humans. The prevalence of this gene change in Australian haemochromatosis patients will be examined followed by a systematic analysis of how this protein controls iron levels in the body. Our goal is to identify and diagnose genetic changes which influence iron loading in haemochromatosis patients.

遗传性血色病是人类最常见的遗传性疾病之一，每200名澳大利亚人中就有1人受到影响。我们已经确定了一个过氧化物酶体基因的变化，这可能会影响人类的铁水平。澳大利亚血色病患者中这种基因变化的流行率将被检查，然后系统分析这种蛋白质如何控制体内的铁水平。我们的目标是确定和诊断影响血色病患者铁负荷的遗传变化。