Cyclic AMP metabolism in fragile X syndrome
Abstract
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 E1 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 E1- and forskolin-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.
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cAMP is down regulated in FXS.
“It has been known for many years that cAMP, an important energy compound for improving synaptic connections, is down regulated in FXS [140].”
From An Update on Psychopharmacological Treatment of Autism Spectrum Disorder (2022) · cites this paper as [140]
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- Authors
- Berry‐Kravis, E., & Huttenlocher, P. R.
- Affiliations
- University of Chicago (US)
- Corresponding author
- Berry‐Kravis, Elizabeth
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 1992-01
- Volume
- 31
- Issue
- 1
- Pages
- 22-26
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2087942365
- Cited by
- 81
- References
- 23
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 8 · 2023: 2 · 2022: 5 · 2021: 14 · 2020: 1 · 2019: 4 · 2018: 4 · 2017: 5 · 2016: 2 · 2015: 3 · 2014: 1 · 2012: 3
- FWCI
- 2.18
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Phosphodiesterase function and regulation
- Keywords
- fragile X syndrome, cyclic AMP metabolism, platelets, cAMP production, phosphodiesterase inhibition, prostaglandin E1, forskolin, biochemical heterogeneity, clinical heterogeneity
- MeSH terms
- Cyclic AMP, Adolescent, Adult, Alprostadil, Blood Platelets, Child, Child, Preschool, Female, Colforsin, Fragile X Syndrome, Humans, Learning, Male, Memory, Short-Term, Intellectual Disability, Middle Aged, 1-Methyl-3-isobutylxanthine, Second Messenger Systems
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