Inokuchi Jin-Ichi, Go Shinji, Suzuki Akemi, Nakagawasai Osamu, Odaira-Satoh Takayo, Veillon Lucas, Nitta Takahiro, McJarrow Paul, Kanoh Hirotaka, Inamori Kei-Ichiro, Tan-No Koichi, Collett Michael
Division of Glycopathology, Institute of Molecular Biomembranes and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
Forefront Research Centre, Graduate School of Science, Osaka University, Toyonaka, Japan.
Front Neurosci. 2024 Jul 25;18:1387221. doi: 10.3389/fnins.2024.1387221. eCollection 2024.
Ganglioside GM3 synthase is a key enzyme involved in the biosynthesis of gangliosides. GM3 synthase deficiency (GM3SD) causes an absence of GM3 and all downstream biosynthetic derivatives, including all the a-, b-, c-series gangliosides, commonly found in neural tissues. The affected individuals manifest with severe irritability, intractable seizures, hearing loss, blindness, and profound intellectual disability. It has been reported that oral ganglioside supplementation has achieved some significant improvements in clinical symptoms, growth parameters, and developmental and cognitive scores in GM3SD patients. To gain insight into the molecular mechanisms of this supplementation, we performed supplementation of oral bovine milk gangliosides to GM3 synthase-deficient mice from early weaning periods. The oral milk ganglioside preparations were dominated by GM3 and GD3 gangliosides. Oral milk ganglioside supplementation improved the decreased cognitive function observed in GM3 synthase-deficient mice. The improvement in cognitive function was accompanied by increased ganglioside levels and neurogenesis in the hippocampus in the supplemented animals.
神经节苷脂GM3合酶是参与神经节苷脂生物合成的关键酶。GM3合酶缺乏症(GM3SD)导致GM3以及所有下游生物合成衍生物缺失,包括神经组织中常见的所有a、b、c系列神经节苷脂。受影响个体表现出严重易怒、难治性癫痫发作、听力丧失、失明和严重智力残疾。据报道,口服神经节苷脂补充剂已在GM3SD患者的临床症状、生长参数以及发育和认知评分方面取得了一些显著改善。为深入了解这种补充剂的分子机制,我们从早期断奶期开始对GM3合酶缺陷小鼠进行口服牛乳神经节苷脂补充。口服乳神经节苷脂制剂以GM3和GD3神经节苷脂为主。口服乳神经节苷脂补充改善了GM3合酶缺陷小鼠中观察到的认知功能下降。认知功能的改善伴随着补充动物海马体中神经节苷脂水平的增加和神经发生。