Document Detail


SSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortex.
MedLine Citation:
PMID:  18696252     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Succinic semialdehyde dehydrogenase (SSADH) deficiency is an inherited disorder in which patients display neurodevelopmental retardation, ataxia, and epileptic seizures. The recently engineered SSADH knock-out (KO) mouse models the severe form of the human disorder. The SSADH enzyme participates in the breakdown of the inhibitory neurotransmitter GABA, and studies have shown increases in brain GABA and downregulation of GABA(A) receptor beta(2) subunits in the cerebral cortex of these mice. Here, we used brain slice electrophysiology to investigate the alterations in GABA neurotransmission in SSADH KO mouse cortex. In layer 2/3 pyramidal cells, spontaneous inhibitory postsynaptic currents (IPSCs), reflecting activity of GABAergic synaptic contacts, were normal in SSADH KO mice. Also, IPSCs evoked by electrical single-axon stimulation in KO mice were normal. In contrast, tonic inhibition mediated by presumed extrasynaptic GABA(A) receptors was strongly increased, indicating significantly raised extracellular GABA levels. The excessive cortical GABAergic neurotransmission may participate in the seizure activity in SSADH deficiency.
Authors:
K R Drasbek; I Vardya; M Delenclos; K M Gibson; K Jensen
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2008-08-15
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  31     ISSN:  1573-2665     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2008 Dec 
Date Detail:
Created Date:  2008-12-05     Completed Date:  2009-04-24     Revised Date:  2011-09-26    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  662-8     Citation Subset:  IM    
Affiliation:
Synaptic Physiology Laboratory, Institute of Physiology and Biophysics, University of Aarhus, Aarhus, Denmark.
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MeSH Terms
Descriptor/Qualifier:
Animals
Brain
Cerebral Cortex / metabolism*
Electrophysiology / methods
Female
Gene Expression Regulation*
Heterozygote
Humans
Male
Mice
Mice, Knockout
Models, Biological
Receptors, GABA-A / metabolism*
Succinate-Semialdehyde Dehydrogenase / deficiency*,  metabolism
gamma-Aminobutyric Acid / metabolism*
Grant Support
ID/Acronym/Agency:
NS 40270/NS/NINDS NIH HHS; R01 NS040270-07/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
0/Receptors, GABA-A; 56-12-2/gamma-Aminobutyric Acid; EC 1.2.1.24/Succinate-Semialdehyde Dehydrogenase
Comments/Corrections

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