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

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。

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.