Publication
Title
Positron emission tomography (PET) quantification of $GABA_{A}$ receptors in the brain of fragile X patients
Author
Abstract
 Over the last several years, evidence has accumulated that the GABA(A) receptor is compromised in animal models for fragile X syndrome (FXS), a common hereditary form of intellectual disability. In mouse and fly models, agonists of the GABA(A) receptor were able to rescue specific consequences of the fragile X mutation. Here, we imaged and quantified GABA(A) receptors in vivo in brain of fragile X patients using Positron Emission Topography (PET) and [C-11] flumazenil, a known high-affinity and specific ligand for the benzodiazepine site of GABA(A) receptors. We measured regional GABA(A) receptor availability in 10 fragile X patients and 10 control subjects. We found a significant reduction of on average 10% in GABA(A) receptor binding potential throughout the brain in fragile X patients. In the thalamus, the brain region showing the largest difference, the GABA(A) receptor availability was even reduced with 17%. This is one of the first reports of a PET study of human fragile X brain and directly demonstrates that the GABA(A) receptor availability is reduced in fragile X patients. The study reinforces previous hypotheses that the GABA(A) receptor is a potential target for rational pharmacological treatment of fragile X syndrome.
Language
English
Source (journal)
PLoS ONE
Publication
2015
ISSN
1932-6203
Volume/pages
10:7(2015), 12 p.
Article Reference
e0131486
ISI
000358836800015
Medium
E-only publicatie
Full text (Publisher's DOI)
Full text (open access)
UAntwerpen
 Faculty/Department Research group Publication type Subject Affiliation Publications with a UAntwerp address