Development of a Mouse Model for the Study of Human Purine Metabolism
Patients with Down syndrome are known to be hyperuricemic and this condition is thought to result from the over-production of purines (Pant et al., 1968). Only one purine metabolism gene is located on human chromosome 21 in the critical region associated with Down syndrome. This gene encodes for the trifunctional protein composed of phosphoribosylglycinamide synthetase (GARS), phosphoribosylglycinamide transformylase (GART) and phosphoribosylaminoimidazole synthetase (AIRS). Increased levels of this protein, known collectively as GART, have also been observed in the cultured fibroblasts of Down Syndrome patients (Scoggin et al., 1980) It is therefore highly likely that the increased levels of purines described in these patients is directly due to their over-expression of the GART trifunctional protein.
KeywordsDown Syndrome Purine Metabolism Nitrocellulose Paper Purine Degradation Lower Molecular Mass Protein
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- Scoggin, C. H., Bleskan, J., Davidson, J. N. and Patterson, D., 1980, Gene expression of glycinamide ribonucleotide synthetase in Down syndrome, Clin. Res. 28:31.Google Scholar