Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated.

摘要: Sialin is a lysosomal membrane protein encoded by the SLC17A5 gene, which mutated in patients with sialic acid storage diseases (SASD). To further understand role of sialin normal CNS development and progressive neuronal atrophy dysmyelination seen SASD, we investigated its cellular distribution adult developing mice. Overall, showed granular immunoreactivity, consistent vesicular protein. Adult mice widespread expression, including brain, heart, lung, liver. High-level immunoreactivity was neuropil hippocampus, striatum, cerebral cortex, as well perikarya cerebellar Purkinje cells, globus pallidus, certain thalamic brainstem nuclei. In mouse embryos, highest levels expression were observed nervous system. We discuss possible SASD pathogenesis, framework for investigation function these contexts.