Cited by 318Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology ResearchDown syndrome and intellectual disability research

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Decreased expression of the GABAA receptor in fragile X syndrome

D'Hulst, Charlotte, De Geest, Natalie, Reeve, Simon P., Van Dam, Debby, De Deyn, Peter P., Hassan, Bassem A., Kooy, R. Frank·2006·Brain Research

DOI 10.1016/j.brainres.2006.08.115

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Abstract

After our initial discovery of under expression of the GABA(A) receptor delta subunit in a genome wide screening for differentially expressed mRNAs in brain of fragile X mice, a validated model for fragile X mental retardation syndrome, we analyzed expression of the 17 remaining subunits of the GABA(A) receptor using real-time PCR. We confirmed nearly 50% under expression of the delta subunit and found a significant 35%-50% reduction in expression of 7 additional subunit mRNAs, namely alpha(1), alpha(3), and alpha(4), beta(1) and beta(2) and gamma(1) and gamma(2), in fragile X mice compared to wild-type littermates. In concordance with previous results, under expression was found in cortex, but not in cerebellum. Moreover, decreased expression of specific GABA(A) receptor subunits in fragile X syndrome seems to be an evolutionary conserved hallmark since in the fragile X fly (Drosophila melanogaster) model we also found almost 50% under expression of all 3 subunits which make up the invertebrate GABA receptor, namely Grd, Rdl and Lcch3. In addition, we demonstrated a direct correlation between the amount of dFmrp and the expression of the GABA receptor subunits Rdl and Grd. Our results add evidence to previous observations of an altered GABAergic system in fragile X syndrome. Because GABA(A) receptors are the major inhibitory receptors in brain, involved in anxiety, depression, insomnia, learning and memory and epilepsy, processes also disturbed in fragile X patients, the well described GABA(A) receptor pharmacology might open new powerful opportunities for treatment of the behavioral and epileptic phenotype associated with fragile X syndrome.

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Involvement of mGluR5/Homer crosstalk disruption in the pathophysiology of Fragile X Syndrome
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FRAGILE X MENTAL RETARDATION PROTEIN IS REDUCED IN CEREBELLA OF SUBJECTS WITH AUTISM: BRIEF REPORT
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Authors: D'Hulst, C., De Geest, N., Reeve, S. P., Van Dam, D., De Deyn, P. P., Hassan, B. A., & Kooy, R. F.
Affiliations: KU Leuven (BE)
University of Antwerp (BE)
Corresponding author: Kooy, R. Frank
ORCID: Hassan, Bassem A.
Kooy, R. Frank
Venue: Brain Research
Publisher: Elsevier BV
Published: 2006-11
Volume: 1121
Issue: 1
Pages: 238-245
ISSN: 0006-8993 (ISSN-L)
DOI: 10.1016/j.brainres.2006.08.115
OpenAlex: W1972740284
Cited by: 318
References: 47
Citations by year: 2026: 5 · 2025: 9 · 2024: 5 · 2023: 14 · 2022: 20 · 2021: 10 · 2020: 18 · 2019: 15 · 2018: 10 · 2017: 18 · 2016: 16 · 2015: 28 · 2014: 26 · 2013: 22 · 2012: 24
FWCI: 4.35
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Brain Research (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
Keywords: fragile X syndrome, GABAA receptor, GABA receptor subunits, Drosophila, FMRP, GABAergic system, gene expression, cortex, cerebellum, epilepsy, anxiety, learning and memory
MeSH terms: Animals, Crosses, Genetic, Disease Models, Animal, Fragile X Syndrome, Gene Expression Regulation, Humans, Male, Mice, Inbred C57BL, Mice, Mutant Strains, Mutation, Receptors, GABA-A, RNA, Messenger, Down-Regulation, Mice, Fragile X Messenger Ribonucleoprotein 1

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Decreased expression of the GABAA receptor in fragile X syndrome

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