engleski

Mouse models for ganglioside deficiency

Aim: Ganglioside storage diseases are well described in some populations, whereas deficiency is extremely rare and postulated as lethal for humans. The mouse models described develop neurological deficit at adult age, which is comprised of impaired peripheral nerve regeneration, dysmyelination and axonal degeneration. We compared B4galnt1 knockout, complete deficiency of complex gangliosides and St8sia1 that lack GD3 synthase and express deficiency in b-series gangliosides. Methods: The brain tissue morphology was compared with the use of histological and immunohistochemical methods. Behavioral studies involve activity cage before and after inhalatory anesthesia. Results: Both genotypes show no difference in brain morphology and have no shortening of life expectancy. B4galnt1 knockout develops dysmyelination at adult age accompanied by motor deficiency. Anesthesia induction was significantly prolonged in 3 month old B4galnt1 knockouts, whereas motor behavior in activity cage recovered in shorter time compared with the wild type and St8sia1 animals. Conclusions: The neurological deficit in mouse models of ganglioside deficiency is very mild and is not expressed at the morphological level during juvenile stage. Specific characteristics of the phenotype can be provoked with the use of inhalatory anesthetics, which function at the level of lipid rafts.

ganglioside deficiency; mouse models; B4galnt1 knockout; St8sia1 knockout; ganglioside storage diseases

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