Key result
Single-dose oral Neu5Gc or gene therapy increases muscle Neu5Gc in myopathy mice, unlike dietary loading.
Why the study?
It remained unclear which therapeutic strategy is most promising for restoring sialic acid levels in skeletal muscle affected by GNE myopathy.
In a mouse model of GNE myopathy, single dose oral Neu5Gc monosaccharide or GNE gene therapy effectively increased muscle sialic acid expression, whereas dietary glycoprotein loading did not.
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Does not support dietary Neu5Gc for GNE myopathy; leaves open monosaccharide or gene therapy for further preclinical testing.
A 2021 study studied GNE myopathy. Dietary Neu5Gc, oral Neu5Gc monosaccharide, or GNE gene therapy vs. Wild type mice / baseline was evaluated on Neu5Gc immunostaining in muscles. Single dose oral Neu5Gc monosaccharide or GNE gene therapy increased muscle Neu5Gc immunostaining in a mouse model of GNE myopathy, whereas dietary loading of Neu5Gc-containing glycoproteins did not.
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