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Lack of significant ganglioside changes in <i>Slc17a5</i> heterozygous mice: Relevance to FSASD and Parkinson's disease.

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.

SUBMITTER: Sabir MS 

PROVIDER: S-EPMC11937675 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature

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Lack of significant ganglioside changes in &lt;i&gt;Slc17a5&lt;/i&gt; heterozygous mice: Relevance to FSASD and Parkinson's disease.

Sabir Marya S MS   Hossain Mahin S MS   Pollard Laura L   Huizing Marjan M   Gahl William A WA   Platt Frances M FM   Malicdan May Christine V MCV  

Biochemistry and biophysics reports 20250314

Large population-based studies of Parkinson's disease (PD) have identified susceptibility genes, including <i>SLC17A5</i>. Biallelic mutations in <i>SLC17A5</i>, 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 <i>Slc17a5</i> p.Arg39Cys (p.R39C) variant. Our analysis  ...[more]