GNE myopathy is an adult-onset degenerative muscle disease that leads to extreme disability in patients. Biallelic mutations in the rate-limiting enzyme UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine-kinase (GNE) of sialic acid (SA) biosynthetic pathway, was shown to be the cause of this disease. Other genetic disorders with muscle pathology where defects in glycosylation are known. It is yet not clear why a defect in SA biosynthesis and glycosylation affect muscle cells selectively even though they are ubiquitously present in all tissues. Here we have comprehensively examined the complete SA metabolic pathway involving biosynthesis, sialylation, salvage, and catabolism. To understand the reason for tissue-specific phenotype caused by mutations in genes of this pathway, we analysed the expression of different SA pathway genes in various tissues, during the muscle tissue development and in muscle tissues from GNE myopathy patients (p.Met743Thr) using publicly available databases. We have also analysed gene co-expression networks with GNE in different tissues as well as gene interactions that are unique to muscle tissues only. The results do show a few muscle specific interactions involving ANLN, MYO16 and PRAMEF25 that could be involved in specific phenotype. Overall, our results suggest that SA biosynthetic and catabolic genes are expressed at a very low level in skeletal muscles that also display a unique gene interaction network.

GNE 肌病是一种成人发病的退行性肌肉疾病，可导致患者极度残疾。唾液酸 (SA) 生物合成途径的限速酶 UDP-N-乙酰葡糖胺-2-差向异构酶/N-乙酰甘露糖胺激酶 (GNE) 中的双等位基因突变被证明是这种疾病的原因。其他已知糖基化缺陷的肌肉病理遗传病。目前尚不清楚为什么 SA 生物合成和糖基化的缺陷会选择性地影响肌肉细胞，即使它们普遍存在于所有组织中。在这里，我们全面检查了涉及生物合成、唾液酸化、补救和分解代谢的完整 SA 代谢途径。为了了解该途径基因突变引起组织特异性表型的原因，我们使用公开可用的数据库分析了不同 SA 通路基因在各种组织中、肌肉组织发育过程中和来自 GNE 肌病患者 (p.Met743Thr) 的肌肉组织中的表达。我们还分析了基因共表达网络不同组织中的GNE以及仅肌肉组织独有的基因相互作用。结果确实显示了一些涉及ANLN、MYO16和PRAMEF25 的肌肉特异性相互作用，这些相互作用可能与特定表型有关。总的来说，我们的结果表明 SA 生物合成和分解代谢基因在骨骼肌中的表达水平非常低，骨骼肌也显示出独特的基因相互作用网络。