Quantification of mRNAs encoding proteins of the glycosphingolipid catabolism in mouse models of GM2 gangliosidoses and sphingolipid activator protein precursor (prosaposin) deficiency

We have investigated the mRNA amounts of six lysosomal proteins (beta -hexo saminidase alpha- and beta -subunit, sphingolipid activator protein precurs or, GM2 activator protein, lysosomal sialidase, beta -glucocerebrosidase) i nvolved in the degradation of glycosphingolipids. We analyzed extracts from brain tissues of mouse models for lysosomal storage diseases, i.e., the GM 2 gangliosidoses and the deficiency of the sphingolipid activator protein p recursor (prosaposin). The mRNA levels were quantified by real-time reverse transcription-polymerase chain reaction. Although storage of the respectiv e lysosomal proteins has been reported in human and mice, no increase of th eir mRNA amounts could be detected here. Our results indicate that there is no transcriptional upregulation of lysosomal proteins in the examined neur onal storage disorders. (C) 2000 Elsevier Science B.V. All rights reserved.