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Cyclic AMP metabolism in fragile X syndrome
Author(s) -
BerryKravis Elizabeth,
Huttenlocher Peter R.
Publication year - 1992
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410310105
Subject(s) - adenylate kinase , forskolin , cyclase , medicine , basal (medicine) , phosphodiesterase , endocrinology , protein subunit , prostaglandin , platelet , prostaglandin e , fragile x syndrome , chemistry , biology , receptor , enzyme , biochemistry , psychiatry , insulin , gene
Cyclic AMP (cAMP) metabolism was studied in platelets from a series of 14 patients with fragile X syndrome (fra X) and 21 control individuals. 1‐Isobutyl‐3‐methylxanthine was used to inhibit phosphodiesterase and thus measure cAMP production, prostaglandin E 1 was used to assess receptor‐mediated cAMP accumulation, and forskolin was used to directly stimulate the catalytic subunit. In patients with fra X, basal production was 63% of that of control subjects ( p = 0.019). Prostaglandin E 1 – and forskalin‐stimulated production were 61% ( p = 0.039) and 56% ( p = 0.012) of that of control subjects, respectively. cAMP production in 8 patients with fra X overlapped the control range, whereas measures of production in 6 patients formed a cluster with values lower than any of the 21 control subjects assayed, suggesting possible biochemical heterogeneity within patients with fra X. Results obtained from the group of patients with fra X suggest possible abnormal function or regulation of the catalytic subunit of adenylate cyclase in at least a subgroup of patients with fra X. Variability of biochemical findings in patients with fra X may reflect the known high variability of the clinical syndrome.