부산대학교 도서관

GNE myopathy is an autosomal recessive adult‐onset distal myopathy caused by biallelic variants in the GNE gene, which encodes a protein with two key enzymatic activities in the biosynthesis of sialic acid. In 1981, there was a report of a Japanese family in which muscle biopsies showed rimmed vacuoles in tibialis anterior with relative sparing of the quadriceps muscles. Twenty years later, the causative gene was identified to be GNE. Our group has constructed a mouse model that recapitulates the symptoms of GNE myopathy in patients and demonstrates the therapeutic effects of oral sialic acid supplementation on muscle phenotypes. The first clinical trial of N‐acetylneuraminic acid (NeuAc) was conducted in 2010 at Tohoku University, and several clinical trials are now underway at multiple sites. Patient registries have also been started, including the Japanese Registry of Muscular Dystrophy (Remudy, established in 2012) and the online international GNE Myopathy Disease Monitoring Program (launched in 2014). These registries have allowed collection of comprehensive patient data, including new clinical features suggesting that GNE myopathy is not only a disease of skeletal muscle. In this review, we summarize the history of research on GNE myopathy and discuss the mechanism of the disease and its more recently identified features. [ABSTRACT FROM AUTHOR]