Narajczyk Magdalena, Moskot Marta, Konieczna Aleksandra
Laboratory of Electron Microscopy, University of Gdańsk, Gdańsk, Poland.
Acta Biochim Pol. 2012;59(4):693-6. Epub 2012 Dec 11.
Mucopolysaccharidoses (MPS) are severe inherited metabolic disorders caused by storage of glycosaminoglycans (GAGs). The level of accumulated GAGs is an important parameter in assessment of the severity of the disease and the efficacy of treatment; unfortunately, biochemical methods are often unreliable and only semi-quantitative. Therefore, finding other methods for estimation of GAG levels and/or assessment of the efficacy of applied therapy is very important. Although monitoring of GAG levels during therapy is crucial, in this work it is proposed that analysis of the ultrastructure of MPS cells by electron microscopic techniques can be considered as an alternative and reliable method for assessment of lysosomal storage. The number of complex lysosomal structures was found to be significantly higher in MPS cells relative to controls, while it decreased significantly in response to either enzyme replacement therapy or substrate reduction therapy. Thus, this parameter, easily assessed by electron microscopy, appears to correspond to the physiological state of MPS cells.
黏多糖贮积症（MPS）是由糖胺聚糖（GAGs）蓄积引起的严重遗传性代谢紊乱疾病。蓄积的GAGs水平是评估疾病严重程度和治疗效果的重要参数；不幸的是，生化方法往往不可靠且只是半定量的。因此，寻找其他估算GAGs水平和/或评估所用治疗方法疗效的方法非常重要。虽然治疗期间监测GAGs水平至关重要，但在本研究中提出，通过电子显微镜技术分析MPS细胞的超微结构可被视为评估溶酶体贮积的一种替代且可靠的方法。发现MPS细胞中复杂溶酶体结构的数量相对于对照组显著更高，而在酶替代疗法或底物减少疗法后其数量显著减少。因此，这个通过电子显微镜易于评估的参数似乎与MPS细胞的生理状态相对应。
