Baes Myriam, Van Veldhoven Paul P
Laboratory for Cell Metabolism, Campus Gasthuisberg Onderwijs en Navorsing II, bus 823 Herestraat 49 B-3000, Department of Pharmaceutical Sciences, Katholieke Universiteit Leuven, Leuven, Belgium.
Biochim Biophys Acta. 2006 Dec;1763(12):1785-93. doi: 10.1016/j.bbamcr.2006.08.018. Epub 2006 Aug 25.
During the past 10 years, several Pex genes have been knocked out in the mouse with the purpose to generate models to study the pathogenesis of peroxisome biogenesis disorders and/or to investigate the physiological importance of the Pex proteins. More recently, mice with selective inactivation of a Pex gene in particular cell types were created. The metabolic abnormalities in peroxisome deficient mice paralleled to a large extent those of Zellweger patients. Several but not all of the clinical and histological features reported in patients also occurred in peroxisome deficient mice as for example hypotonia, cortical and cerebellar malformations, endochondral ossification defects, hepatomegaly, liver fibrosis and ultrastructural abnormalities of mitochondria in hepatocytes. Although the molecular origins of the observed pathologies have not yet been resolved, several new insights on the importance of peroxisomes in different tissues have emerged.
在过去10年里，为了构建模型来研究过氧化物酶体生物发生障碍的发病机制和/或探究过氧化物酶体蛋白（Pex蛋白）的生理重要性，几种Pex基因在小鼠中被敲除。最近，还培育出了特定细胞类型中Pex基因选择性失活的小鼠。过氧化物酶体缺陷小鼠的代谢异常在很大程度上与泽尔韦格综合征患者的代谢异常相似。患者报告的一些（但不是全部）临床和组织学特征也出现在过氧化物酶体缺陷小鼠中，例如肌张力减退、皮质和小脑畸形、软骨内成骨缺陷、肝肿大、肝纤维化以及肝细胞线粒体的超微结构异常。尽管所观察到的病理状况的分子起源尚未得到解决，但关于过氧化物酶体在不同组织中的重要性已经有了一些新的见解。
