Purine dysfunction in cells from patients with adenosine deaminase deficiency.

Abstract:

:Conversion of adenosine to inosine is decreased in adenosine deaminase (ADA)-deficient fibroblasts at all concentrations of adenosine tested. Adenosine is not differentially toxic to ADA-deficient fibroblasts except at very high (5 X 10(-4) -1 X 10(-3) M) adenosine levels. Conversion of [14C] adenosine to GTP is not decreased in ADA-deficient cells compared with control cell strains. Adenosine conversion to ATP is the same as that in mutant cells except at high nonphysiologic concentrations, at which it is slightly decreased in ADA-deficient fibroblasts. This effect is probably not related to the biochemical pathology of ADA-deficient lymphocytes in vivo. Uridine, a pyrimidine compound, "rescues" control cells from the effects of adenosine toxicity, as previously reported, but it has no protective effect on ADA-deficient fibroblasts. This suggests that uridine will have no therapeutic role in the treatment of the ADA-deficient form of severe combined immunodeficiency (SCID) disease.

journal_name

Pediatr Res

journal_title

Pediatric research

authors

Benke PJ,Dittmar D

doi

10.1203/00006450-197607000-00002

subject

Has Abstract

pub_date

1976-07-01 00:00:00

pages

642-6

issue

7

eissn

0031-3998

issn

1530-0447

journal_volume

10

pub_type

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