Work

Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease

Year: 2025

Type: article

Abstract: Large population-based studies of Parkinson's disease (PD) have identified susceptibility genes, including SLC17A5 . Biallelic mutations in SLC17A5 , encoding the lysosomal sialic acid transporter sialin, cause the rare neurodegenerative disease, free sialic acid storage disorder (FSASD). To explore a potential biochemical link between FSASD and PD, we investigated ganglioside concentrations in a novel mouse model harboring the Slc17a5 p.Arg39Cys (p.R39C) variant. Our analysis revealed no significant alterations in ganglioside concentrations in heterozygous p.R39C mice, warranting further studies into other potential links between PD and sialin defects. • Large PD population studies have identified susceptibility genes, including SLC17A5. • No impairment of gangliosides in Slc17a5 p.R39C heterozygous mice. • Study highlights complexity of FSASD and PD connections via lysosomal dysfunction.

Source: Biochemistry and Biophysics Reports

DOI: 10.1016/j.bbrep.2025.101979