Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy.

ABSTRACT: Sialic acids are monosaccharides found in terminal sugar chains of cell surfaces and proteins; they have various biological functions and have been implicated in health and disease. Genetic defects of the GNE gene which encodes a critical bifunctional enzyme for sialic acid biosynthesis, lead to GNE myopathy, a disease manifesting with progressive muscle atrophy and weakness. The likely mechanism of disease is a lack of sialic acids. There remains, however, an unexplained link between hyposialylation and the muscle atrophy and weakness. In this study, we found that muscle proteins were highly modified by S-nitrosylation, and that oxidative stress-responsive genes were significantly upregulated, in hyposialylated muscles from human GNE myopathy patients and model mice. In both in vitro and

SUBMITTER: Cho A 

PROVIDER: S-EPMC6075185 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature