Impaired glutathione synthesis in schizophrenia: convergent genetic and functional evidence

Details

Serval ID
serval:BIB_701A10B9CD06
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Impaired glutathione synthesis in schizophrenia: convergent genetic and functional evidence
Journal
Proceedings of the National Academy of Sciences of the United States of America
Author(s)
Gysin R., Kraftsik R., Sandell J., Bovet P., Chappuis C., Conus P., Deppen P., Preisig M., Ruiz V., Steullet P., Tosic M., Werge T., Cuénod M., Do K.Q.
ISSN
0027-8424
Publication state
Published
Issued date
2007
Peer-reviewed
Oui
Volume
104
Number
42
Pages
16621-16626
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Abstract
Schizophrenia is a complex multifactorial brain disorder with a genetic component. Convergent evidence has implicated oxidative stress and glutathione (GSH) deficits in the pathogenesis of this disease. The aim of the present study was to test whether schizophrenia is associated with a deficit of GSH synthesis. Cultured skin fibroblasts from schizophrenia patients and control subjects were challenged with oxidative stress, and parameters of the rate-limiting enzyme for the GSH synthesis, the glutamate cysteine ligase (GCL), were measured. Stressed cells of patients had a 26% (P = 0.002) decreased GCL activity as compared with controls. This reduction correlated with a 29% (P < 0.001) decreased protein expression of the catalytic GCL subunit (GCLC). Genetic analysis of a trinucleotide repeat (TNR) polymorphism in the GCLC gene showed a significant association with schizophrenia in two independent case-control studies. The most common TNR genotype 7/7 was more frequent in controls [odds ratio (OR) = 0.6, P = 0.003], whereas the rarest TNR genotype 8/8 was three times more frequent in patients (OR = 3.0, P = 0.007). Moreover, subjects with disease-associated genotypes had lower GCLC protein expression (P = 0.017), GCL activity (P = 0.037), and GSH contents (P = 0.004) than subjects with genotypes that were more frequent in controls. Taken together, the study provides genetic and functional evidence that an impaired capacity to synthesize GSH under conditions of oxidative stress is a vulnerability factor for schizophrenia.
Keywords
Case-Control Studies, Cells, Cultured, Female, Fibroblasts, Glutamate-Cysteine Ligase, Glutathione, Humans, Male, Oxidative Stress, Polymorphism, Genetic, Protein Subunits, Schizophrenia, Skin, Trinucleotide Repeats
Pubmed
Web of science
Open Access
Yes
Create date
10/03/2008 10:59
Last modification date
20/08/2019 15:28
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