- 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 mutation mechanism is at work in GNE myopathy.
