剖析N-乙酰甘露糖胺（ManNAc）对唾液酸转运蛋白缺陷细胞模型中神经节苷脂水平的影响。
Dissecting the impact of N-acetylmannosamine (ManNAc) on ganglioside levels in a sialin-deficient cell model.
作者信息
Sabir Marya S, Huizing Marjan, Gahl William A, Platt Frances M, Malicdan May Christine V
机构信息
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
NIH Oxford-Cambridge Scholars Program, University of Oxford, Oxford, UK.
出版信息
MicroPubl Biol. 2025 Sep 2;2025. doi: 10.17912/micropub.biology.001733. eCollection 2025.
Lysosomal free sialic acid storage disorder (FSASD) is an ultra-rare neurodegenerative condition caused by mutations in , which encodes the lysosomal sialic acid exporter, sialin. Deficiency of sialin leads to lysosomal accumulation of unconjugated ("free") sialic acid. This study investigated the ability of N-acetylmannosamine (ManNAc), a precursor of sialic acid, to rescue glycosphingolipid (GSL) sialylation in a SLC17A5-deficient HEK-293T model system. Our findings reveal that while ManNAc supplementation may enhance sialic acid biosynthesis, it does not fully restore ganglioside sialylation to wild-type levels, highlighting the essential role of lysosomal sialic acid recycling in maintaining GSL sialylation homeostasis.
溶酶体游离唾液酸贮积症（FSASD）是一种极为罕见的神经退行性疾病，由 中的突变引起，该基因编码溶酶体唾液酸转运蛋白——唾液酸转运体。唾液酸转运体缺乏会导致未结合（“游离”）唾液酸在溶酶体中蓄积。本研究在缺乏SLC17A5的HEK-293T模型系统中，研究了唾液酸前体N-乙酰甘露糖胺（ManNAc）挽救糖鞘脂（GSL）唾液酸化的能力。我们的研究结果表明，虽然补充ManNAc可能会增强唾液酸的生物合成，但它并不能将神经节苷脂的唾液酸化完全恢复到野生型水平，这突出了溶酶体唾液酸循环在维持GSL唾液酸化稳态中的重要作用。
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