Brooks D A
Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, Australia.
J Inherit Metab Dis. 1993;16(1):3-15. doi: 10.1007/BF00711309.
The immunochemical analysis of enzyme from mucopolysaccharidoses (MPS) patients is aimed at defining the level and nature of the enzymically deficient protein produced by specific gene mutations. Immunochemical techniques allow purification of enzyme, characterization of the composite molecular species, measurement of cellular protein content, investigation of protein biosynthesis, determination of subcellular distribution, as well as information on protein structure and folding. This review focuses on the application of immunochemical techniques to the study of the aberrant protein produced in skin fibroblast cells derived from MPS patients. The analysis of enzyme protein has been applied to phenotype expression within single enzyme deficiency disorders. It is proposed that reliable prediction of MPS patient phenotype may require a combined approach utilizing immunochemical, biochemical, cell biological and gene analysis. However, this review will address the structure and nature of the protein produced in cells from MPS patients, the biological activity of this protein, and the incorporation of the protein into, and location within, subcellular fractions.
对黏多糖贮积症（MPS）患者的酶进行免疫化学分析，旨在确定特定基因突变产生的酶缺陷蛋白的水平和性质。免疫化学技术可实现酶的纯化、复合分子种类的表征、细胞蛋白质含量的测定、蛋白质生物合成的研究、亚细胞分布的确定，以及获取有关蛋白质结构和折叠的信息。本综述着重于免疫化学技术在研究源自MPS患者的皮肤成纤维细胞中产生的异常蛋白方面的应用。酶蛋白分析已应用于单一酶缺乏症的表型表达研究。有人提出，要可靠预测MPS患者的表型，可能需要综合运用免疫化学、生物化学、细胞生物学和基因分析方法。然而，本综述将探讨MPS患者细胞中产生的蛋白的结构和性质、该蛋白的生物活性，以及该蛋白在亚细胞组分中的掺入情况和定位。
