The Pathology of Comparative Animal Models of Human Haemochromatosis
The Pathology of Comparative Animal Models of Human Haemochromatosis
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DOI：
10.1016/j.jcpa.2012.09.001
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发表时间：
2012-11-01
影响因子：
0.8
通讯作者：
Olias, P.
中科院分区：
文献类型：
--
作者：
Klopfleisch, R.;Olias, P.
血色病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，具有正常的铁驱动的红细胞生成，但重要器官中铁的毒性积累，这是由编码参与限制铁进入血液的蛋白质的任何基因突变引起的。在几种哺乳动物和鸟类中也描述了铁储存疾病，并提出将其作为人类血色病的比较动物模型。铁代谢基因突变的基因工程小鼠品系模拟了人类血色病的几个方面，对这些动物的研究促进了对这种疾病的理解。在非鼠类物种中自发产生的铁储存疾病在某些临床病理学方面也与人类血色病重叠。然而，缺乏这些物种特异性疾病的分子生物学的结论性信息和饮食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有用性。(c)2012爱思唯尔有限公司保留所有权利。
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. (c) 2012 Elsevier Ltd. All rights reserved.