GNE myopathy: the absence of sialic acid in adulthood is not pathological in mice

• Israeli researchers have developed a mouse model of GNE myopathy, in which they induce GNE deficiency in the muscle and liver in adulthood.
• These mice show no signs of functional or structural muscle damage. Despite a severe reduction in the amount of sialic acid in the liver and muscle, they showed no abnormal behaviour or signs.

This study calls into question the pathological role of the absence of sialic acid in the appearance of adult symptoms in humans. The authors hypothesise that a toxic gain-of-function mutationModification soudaine et transmissible du matériel génétique. Elle peut être spontanée ou induite par des agents dits » mutagènes » (radiations, produits toxiques,…). mechanism is at work in GNE myopathy.

Induced muscle and liver absence of Gne in postnatal mice does not result in structural or functional muscle impairment. Harazi A, Yakovlev L, Ilouz N et al. J Neuromuscul Dis. 2024 Jun 12.