Gorelik Alexei, Illes Katalin, Hasan S M Naimul, Nagar Bhushan, Mazhab-Jafari Mohammad T
Department of Biochemistry, McGill University, Montreal, Quebec, Canada.
Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada.
Sci Adv. 2021 May 12;7(20). doi: 10.1126/sciadv.abf4155. Print 2021 May.
The enzymes β-galactosidase (GLB1) and neuraminidase 1 (NEU1; sialidase 1) participate in the degradation of glycoproteins and glycolipids in the lysosome. To remain active and stable, they associate with PPCA [protective protein cathepsin A (CTSA)] into a high-molecular weight lysosomal multienzyme complex (LMC), of which several forms exist. Genetic defects in these three proteins cause the lysosomal storage diseases GM1-gangliosidosis/mucopolysaccharidosis IV type B, sialidosis, and galactosialidosis, respectively. To better understand the interactions between these enzymes, we determined the three-dimensional structure of the murine LMC core. This 0.8-MDa complex is composed of three GLB1 dimers and three CTSA dimers, adopting a triangular architecture maintained through six copies of a unique GLB1-CTSA polar interface. Mutations in this contact surface that occur in GM1-gangliosidosis prevent formation of the LMC in vitro. These findings may facilitate development of therapies for lysosomal storage disorders.
β-半乳糖苷酶(GLB1)和神经氨酸酶1(NEU1;唾液酸酶1)参与溶酶体中糖蛋白和糖脂的降解。为保持活性和稳定性,它们与保护蛋白组织蛋白酶A(CTSA)结合形成高分子量溶酶体多酶复合物(LMC),该复合物存在多种形式。这三种蛋白质的基因缺陷分别导致溶酶体贮积病GM1-神经节苷脂病/IV型粘多糖贮积症B、唾液酸贮积症和半乳糖唾液酸贮积症。为了更好地理解这些酶之间的相互作用,我们确定了小鼠LMC核心的三维结构。这个0.8兆道尔顿的复合物由三个GLB1二聚体和三个CTSA二聚体组成,采用通过六个独特的GLB1-CTSA极性界面拷贝维持的三角形结构。GM1-神经节苷脂病中发生的该接触表面突变会阻止LMC在体外形成。这些发现可能有助于溶酶体贮积症治疗方法的开发。