Abstract
A nucleotide analysis of Bloom's syndrome lymphocytes and fibroblasts has revealed a partial depletion in adenine nucleotide pools. ATP/ADP ratio in these cells was at least three-fold lower than in primary cultures of normal human cells. Fractionation of each adenine nucleotide by high performance liquid chromatography showed that differences did not reflect an excess in ADP but rather low levels of ATP in Bloom's syndrome cultures. Moreover, such low energy state has been correlated with their low growth. Recent data from our laboratory indicate that Bloom's syndrome cells may reflect an impaired salvage pathway of purine biosynthesis since these cells appear to be defective or even lack adenine phosphoribosyl transferase (APRT) activity. Our work mainly focuses on the kinetics of purine salvage pathway in Bloom's syndrome cells, as well as on drug resistance (cytotoxic purine analogs), in order to characterize the extent of the defect.
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Martinez-Valdez, H., Long, T., Andres, A. et al. LOW ADENINE NUCLEOTIDE POOLS IN BLOOM'S SYNDROME MAY REFLECT A DEFECTIVE SALVAGE PURINE BIOSYNTHESIS: 126. Pediatr Res 19, 764 (1985). https://doi.org/10.1203/00006450-198507000-00146
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DOI: https://doi.org/10.1203/00006450-198507000-00146