Pol-Fachin Laercio, Siebert Marina, Verli Hugo, Saraiva-Pereira Maria Luiza
Centro de Biotecnologia, Universidade Federal do Rio Grande do Sul, Avenida Bento Gonçalves 9500, P.O. BOX 15005, Porto Alegre, RS, 91500-970, Brazil.
Departamento de Química Fundamental, Universidade Federal de Pernambuco, Avenida Prof. Luiz Freire, s/n, Cidade Universitária, Recife, PE, 50740-540, Brazil.
Glycoconj J. 2016 Apr;33(2):237-44. doi: 10.1007/s10719-016-9661-7. Epub 2016 Mar 29.
Gaucher disease, an autosomal recessive disorder, is caused by a deficiency of glucocerebrosidase (GCase) enzyme, a peripheral membrane-associated glycoprotein that hydrolyses glucosylceramide in lysosomes. Glycosylation is essential for the development of a catalytically active enzyme, specifically in the first site, located at Asn19. However, both the molecular basis of the relevance of N-glycosylation over GCase activity and the effects of glycosylation over its structure and dynamics are still not fully understood. Thus, the present work evaluated GCase enzyme in increasing glycosylation content using triplicate unbiased molecular dynamics simulations. Accordingly, the N-linked glycan chains caused local conformational stabilization effects over the protein, as well as in regions flanking the enzyme catalytic dyad. In the case of the Asn19-linked glycan, it also occurred around region 438-444, where one of the most prevalent GCase mutations is found. Markedly, an increasing catalytic dyad organization was related to increasing glycosylation contents, offering the first atomic-level explanation for the experimental observation that GCase activity is controlled by glycosylation, especially at Asn19.
戈谢病是一种常染色体隐性疾病,由葡糖脑苷脂酶(GCase)缺乏引起,GCase是一种外周膜相关糖蛋白,可在溶酶体中水解葡糖神经酰胺。糖基化对于催化活性酶的形成至关重要,特别是在位于天冬酰胺19的第一个位点。然而,N-糖基化与GCase活性相关性的分子基础以及糖基化对其结构和动力学的影响仍未完全了解。因此,本研究使用三次无偏分子动力学模拟评估了增加糖基化含量时的GCase酶。相应地,N-连接聚糖链对蛋白质以及酶催化二元组侧翼区域产生了局部构象稳定作用。就与天冬酰胺19连接的聚糖而言,它也发生在438-444区域周围,该区域是最常见的GCase突变之一。值得注意的是,催化二元组组织的增加与糖基化含量的增加有关,这为GCase活性受糖基化控制,尤其是在天冬酰胺19处受糖基化控制这一实验观察结果提供了第一个原子水平的解释。