Levi Sonia, Tiranti Valeria
University Vita-Salute San Raffaele, School of Medicine, 20132 Milano, Italy.
San Raffaele Scientific Institute, Division of Neuroscience, 20132 Milano, Italy.
Pharmaceuticals (Basel). 2019 Feb 9;12(1):27. doi: 10.3390/ph12010027.
Neurodegeneration with brain iron accumulation (NBIA) is a set of neurodegenerative disorders, which includes very rare monogenetic diseases. They are heterogeneous in regard to the onset and the clinical symptoms, while the have in common a specific brain iron deposition in the region of the basal ganglia that can be visualized by radiological and histopathological examinations. Nowadays, 15 genes have been identified as causative for NBIA, of which only two code for iron-proteins, while all the other causative genes codify for proteins not involved in iron management. Thus, how iron participates to the pathogenetic mechanism of most NBIA remains unclear, essentially for the lack of experimental models that fully recapitulate the human phenotype. In this review we reported the recent data on new models of these disorders aimed at highlight the still scarce knowledge of the pathogenesis of iron deposition.
脑铁沉积神经变性病（NBIA）是一组神经退行性疾病，包括非常罕见的单基因疾病。它们在发病和临床症状方面具有异质性，但其共同特征是基底神经节区域有特定的脑铁沉积，这可以通过放射学和组织病理学检查显示出来。如今，已确定15个基因是NBIA的致病基因，其中只有两个编码铁蛋白，而所有其他致病基因编码的蛋白质都与铁代谢无关。因此，铁如何参与大多数NBIA的发病机制仍不清楚，主要是因为缺乏能完全重现人类表型的实验模型。在这篇综述中，我们报告了这些疾病新模型的最新数据，旨在突出对铁沉积发病机制仍知之甚少的情况。
