Welland Jack W J, Barrow Henry G, Stansfeld Phillip J, Deane Janet E
Cambridge Institute for Medical Research, Department of Clinical Neuroscience, University of Cambridge, Cambridge, UK.
School of Life Sciences and Department of Chemistry, Gibbet Hill Campus, The University of Warwick, Warwick, UK.
Nat Commun. 2025 Jul 1;16(1):5442. doi: 10.1038/s41467-025-60593-9.
Glycosphingolipids (GSLs) are crucial membrane components involved in essential cellular pathways. Complex GSLs, known as gangliosides, are synthesised by glycosyltransferase enzymes and imbalances in GSL metabolism cause severe neurological diseases. B4GALNT1 synthesises the precursors to the major brain gangliosides. Loss of B4GALNT1 function causes hereditary spastic paraplegia, while its overexpression is linked to cancers including childhood neuroblastoma. Here, we present crystal structures of the human homodimeric B4GALNT1 enzyme demonstrating dynamic remodelling of the substrate binding site during catalysis. We show that processing of lipid substrates by B4GALNT1 is severely compromised when surface loops flanking the active site are mutated from hydrophobic residues to polar. Molecular dynamics simulations support that these loops can insert into the lipid bilayer explaining how B4GALNT1 accesses and processes lipid substrates. By combining structure prediction and molecular simulations we propose that this mechanism of dynamic membrane insertion is exploited by other, structurally distinct GSL synthesising enzymes.
糖鞘脂(GSLs)是参与重要细胞途径的关键膜成分。复杂的GSLs,即神经节苷脂,由糖基转移酶合成,GSL代谢失衡会导致严重的神经疾病。B4GALNT1合成主要脑内神经节苷脂的前体。B4GALNT1功能丧失会导致遗传性痉挛性截瘫,而其过表达与包括儿童神经母细胞瘤在内的癌症有关。在此,我们展示了人源二聚体B4GALNT1酶的晶体结构,证明了催化过程中底物结合位点的动态重塑。我们发现,当活性位点两侧的表面环从疏水残基突变为极性残基时,B4GALNT1对脂质底物的加工会严重受损。分子动力学模拟表明,这些环可插入脂质双层,解释了B4GALNT1如何接近和加工脂质底物。通过结合结构预测和分子模拟,我们提出这种动态膜插入机制也被其他结构不同的GSL合成酶所利用。