Wilson’s Disease is a rare autosomal recessive disorder in humans, often presenting with hepatic copper overload. Finding the genetic cause of a rare disease, especially if it is related to food constituents like the trace element copper, is a Herculean task. This review describes examples of how the unique population structure of in-bred dog strains led to the discovery of a novel gene and two modifier genes involved in inherited copper toxicosis. COMMD1, after the discovery in 2002, was shown to be a highly promiscuous protein involved in copper transport, protein trafficking/degradation, regulation of virus replication, and inflammation. Mutations in the ATP7A and ATP7B proteins in Labrador retrievers and Dobermann dogs resulted in a wide variation in hepatic copper levels in these breeds. To our knowledge, numerous dog breeds with inherited copper toxicosis of unknown genetic origin exist. Therefore, the possibility that men’s best friend will provide new leads in rare copper storage diseases seems realistic.

中文翻译：

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COMMD1彰显了自交犬剖析罕见的与铜有关的疾病的遗传原因的能力

威尔逊氏病是人类罕见的常染色体隐性遗传疾病，通常表现为肝铜超负荷。寻找罕见疾病的遗传原因，尤其是与诸如微量元素铜之类的食物成分有关时，是一项艰巨的任务。这篇综述描述了近交犬品系独特的种群结构如何导致发现遗传铜中毒症的一个新基因和两个修饰基因的例子。在2002年被发现后，COMMD1被证明是一种高度混杂的蛋白质，参与铜的转运，蛋白质的运输/降解，病毒复制的调节和炎症。拉布拉多犬和杜宾犬中ATP7A和ATP7B蛋白的突变导致这些品种中肝铜水平的广泛差异。据我们所知，存在许多具有未知遗传来源的遗传性铜中毒的犬种。因此，男人最好的朋友将在罕见的铜储存疾病中提供新线索的可能性似乎是现实的。