Article Text

  1. T. D. Jorgensen,
  2. B. A. Barry*,
  3. A. J. Ahern**
  1. University of Washington School of Medicine, Moscow, ID
  2. *University of Portland, Portland, OR
  3. **Rindell University of Portland, Portland, OR


GM1 gangliosidosis is a lysosmal storage disease characterized by the abnormal accumulation of GM1 ganglioside within the cellular lysosomes. This build-up results from a deficiency in the beta-galactosidase enzyme, coded for by the beta-GAL gene. The autosomal recessive disease exists in many organisms, including humans, dogs, mice, and sheep. The sheep disorder physiologically resembles the human type II condition but has yet to be characterized at the molecular level. A Northern hybridization was done using normal and affected lung and liver tissues from sheep. As seen in both the dog and human, it was expected that two mRNA bands would be present, one at approximately 2.4 kb and the other, due to the alternative splicing of the gene into a transcript that codes for the elastin binding protein, at approximately 2.0 kb. Preliminary results indicate the presence of mRNA, however, at a much smaller size than expected as revealed using an mRNA probe based on the partial known amino acid sequence of the sheep elastin binding protein. Further analysis using fibroblast cell lines was performed to determine if this size difference observed was actually due to mRNA degradation. Results at this time are inconclusive as mRNA was not isolated in sufficient amounts from the fibroblast cell lines.

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