Mutation screening of the glutamate cysteine ligase modifier (GCLM) gene in patients with schizophrenia

Butticaz, Christophe and Werge, Thomas and Beckmann, Jacques S. and Cuénod, Michel and Do, Kim Q. and Rivolta, Carlo. (2009) Mutation screening of the glutamate cysteine ligase modifier (GCLM) gene in patients with schizophrenia. Psychiatric Genetics, 19 (4). pp. 201-208.

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Official URL: https://edoc.unibas.ch/82124/

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Experimental evidences show that glutathione and its rate-limiting synthesizing enzyme, the glutamate-cysteine ligase (GCL), are involved in the pathogenesis of schizophrenia. Furthermore, genetic association has been previously reported between two single nucleotide polymorphisms lying in noncoding regions of glutamate cysteine ligase modifier (GCLM) gene, which specifies for the modifier subunit of GCL and schizophrenia.; We wanted to investigate the presence of GCLM true functional mutations, likely in linkage disequilibrium with the previously identified single nucleotide polymorphism alleles, in the same set of cases that allowed the detection of the original association signal.; We screened all the coding regions of GCLM and their intronic flanking vicinities in 353 patients with schizophrenia by direct DNA sequencing.; Ten sequence variations were identified, five of which were not previously described. None of these DNA changes was within the GCLM coding sequence and in-silico analysis failed to indicate functional impairment induced by these variations. Furthermore, screening of normal controls and downstream statistical analyses revealed no significant relationship of any of these DNA variants with schizophrenia.; It is unlikely that functional mutations in the GCLM gene could play a major role in genetic predisposition to schizophrenia and further studies will be required to assess its etiological function in the disease.
Faculties and Departments:03 Faculty of Medicine
09 Associated Institutions > Institute of Molecular and Clinical Ophthalmology Basel (IOB)
UniBasel Contributors:Rivolta, Carlo
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:Wolters Kluwer Health, Inc.
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:12 Apr 2021 08:48
Deposited On:12 Apr 2021 08:48

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