Impaired glutathione synthesis in schizophrenia: convergent genetic and functional evidence

Détails

ID Serval
serval:BIB_701A10B9CD06
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Impaired glutathione synthesis in schizophrenia: convergent genetic and functional evidence
Périodique
Proceedings of the National Academy of Sciences of the United States of America
Auteur⸱e⸱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
Statut éditorial
Publié
Date de publication
2007
Peer-reviewed
Oui
Volume
104
Numéro
42
Pages
16621-16626
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Résumé
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.
Mots-clé
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
Oui
Création de la notice
10/03/2008 10:59
Dernière modification de la notice
20/08/2019 15:28
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