Gne-flox Mouse

Gne, also known as UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase, is a gene encoding a rate-limiting, bifunctional enzyme in the sialic acid biosynthesis pathway. Sialic acid is a monosaccharide essential for the efficient functioning of other protein or lipid molecules with sugar residues on their surface [2,3,6,7].

Gne myopathy, an autosomal recessive muscle disease, is caused by biallelic mutations in the GNE gene [1,2,3,4,5,7]. The pathophysiology of the disease is not fully understood, but hyposialylation of muscle glycans is thought to be crucial [3]. In affected patients, there is slowly progressive muscle weakness starting in early adulthood, initially in the tibialis anterior muscles, with slow progression over time and relative sparing of the quadriceps muscles [1,2,3]. Muscle biopsies show atrophic fibers and rimmed vacuoles without inflammation [1].

In conclusion, Gne plays a vital role in sialic acid biosynthesis, and its malfunction due to mutations is associated with Gne myopathy. Understanding Gne through the study of this disease helps in uncovering the importance of sialic acid in muscle function and may potentially lead to novel therapeutic strategies for this rare muscle disorder [1-9].