GNE Myopathy is a recessive neuromuscular disorder characterized by adult-onset, slowly progressive distal and proximal muscle weakness, and a typical muscle pathology. Although GNE, which is the mutated gene in the disease, is well known as the key enzyme in the biosynthesis pathway of sialic acid, the pathophysiological pathway leading from GNE mutations to the muscle phenotype in GNE Myopathy is still unclear. The obvious hypothesis of impaired sialylation in patients' skeletal muscle as the cause of the disease is still controversial. In the present study we have investigated whether a distinctive altered pattern of sialylation in GNE Myopathy cultured muscle cells could be attributed to a specific glycoconjugate. Mass spectrometry based glycomic methodologies have been utilized to assess the sialylation level of protein N- and O-linked glycans and glycolipid derived glycans from patient and matched control samples. No consistent change in sialylation was detected in glycoconjugates. These results suggest potential additional roles for GNE that could account for the disease pathology.

中文翻译：

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GNE 肌病肌肉细胞的 Glycomic 唾液酸化谱并不表明个体糖合物的唾液酸化不足。

GNE 肌病是一种隐性神经肌肉疾病，其特征是成人发病、缓慢进展的远端和近端肌肉无力，以及典型的肌肉病理。尽管GNE是该病中的突变基因，众所周知是唾液酸生物合成途径中的关键酶，但GNE突变导致GNE肌病肌肉表型的病理生理途径仍不清楚。患者骨骼肌中唾液酸化受损作为该疾病的原因这一明显假设仍然存在争议。在本研究中，我们调查了 GNE 肌病培养的肌肉细胞中唾液酸化的独特改变模式是否可归因于特定的糖缀合物。基于质谱的糖组学方法已被用于评估来自患者和匹配对照样品的蛋白质 N 和 O 连接聚糖和糖脂衍生聚糖的唾液酸化水平。在糖缀合物中未检测到唾液酸化的一致变化。这些结果表明 GNE 的潜在额外作用可以解释疾病病理。