Linked Life Data

12189488

Source:http://linkedlifedata.com/resource/pubmed/id/12189488

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2002-8-21
pubmed:abstractText
We screened 124 individuals for single nucleotide polymorphisms of the alpha1, beta3 and gamma2 genes of the GABA(A) receptor in the regions corresponding to the ligand-binding domains on the protein level. In a patient with chronic insomnia, a missense mutation was found in the gene of the beta3 subunit. This mutation results in the substitution of the amino acid residue arginine for histidine in position 192 (beta3(R192H)). The patient was found to be heterozygous for this mutation. Functional analysis of human alpha1beta3(R192H)gamma2S GABA(A) receptors using ultra fast perfusion techniques revealed a slower rate of the fast phase of desensitization compared with alpha1beta3gamma2S GABA(A) receptors. Additionally, current deactivation [a major determinant of inhibitory postsynaptic current (IPSC) duration] was faster in the mutated receptors. This raises the possibility of decreased GABAergic inhibition contributing to insomnia, as some members of the patient's family also suffer from insomnia. The mutation beta3(R192H) might, therefore, be linked to this condition. The intron/exon boundaries of the alpha1 subunit gene were also established and three additional variants were found in the alpha1 and beta3 genes.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
111
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
154-60
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Functional characterization of the new human GABA(A) receptor mutation beta3(R192H).
pubmed:affiliation
Department of Pharmacology, University of Bern, Friedbuehlstrasse 49, CH-3010 Bern, Switzerland.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't