Klopfleisch R, Olias P
Department of Veterinary Pathology, Faculty of Veterinary Medicine, Freie Universität Berlin, Robert-von-Ostertag-Straße 15, 14163 Berlin, Germany.
J Comp Pathol. 2012 Nov;147(4):460-78. doi: 10.1016/j.jcpa.2012.09.001. Epub 2012 Oct 16.
Haemochromatosis is one of the most common human hereditary diseases. It is defined as a pathological condition with normal iron-driven erythropoiesis, but toxic accumulation of iron in vital organs, which is caused by mutations in any gene that encodes a protein involved in limiting the entry of iron into the blood. Iron storage diseases have also been described in several mammalian and avian species and these have been proposed as comparative animal models for human haemochromatosis. Genetically engineered mouse strains with mutations in iron metabolism genes model several aspects of human haemochromatosis and study of these animals has facilitated understanding of the disease. Spontaneously arising iron storage diseases in non-murine species also overlap in some clinicopathological aspects with human haemochromatosis. However, the lack of conclusive information on the molecular biology of theses species-specific diseases and the common impact of dietary iron concentration on disease progression in most species limit their usefulness as comparative models.
血色素沉着症是人类最常见的遗传性疾病之一。它被定义为一种病理状态，即铁驱动的红细胞生成正常，但重要器官中铁的毒性蓄积，这是由任何编码参与限制铁进入血液的蛋白质的基因突变引起的。在几种哺乳动物和鸟类物种中也描述了铁储存疾病，这些疾病被提议作为人类血色素沉着症的比较动物模型。铁代谢基因突变的基因工程小鼠品系模拟了人类血色素沉着症的几个方面，对这些动物的研究有助于理解该疾病。非小鼠物种中自发出现的铁储存疾病在一些临床病理方面也与人类血色素沉着症重叠。然而，关于这些物种特异性疾病分子生物学的确切信息的缺乏以及饮食中铁浓度对大多数物种疾病进展的共同影响限制了它们作为比较模型的实用性。
