title: A null mutation allele in the CNTF gene and schizophrenic psychoses.
abstract: The maldevelopmental theory postulates disturbances in neural development as crucial factors in the aetiopathogenesis of schizophrenia. Neurotrophic factors, including ciliary neurotrophic factor (CNTF), play a central role in the regulation of such development. A mutation has been described for the CNTF gene, whereby subjects homozygous for the mutation lack CNTF. The polymerase chain reaction was used to amplify the CNTF gene region containing this mutation in whole blood genomic DNA. The mutation was detected by analysis of restriction fragment length polymorphisms. Patients suffering from schizophrenic psychosis (ICD-10 criteria) (51 from Würzburg, 83 from Barcelona), and healthy controls (62 from Würzburg, 50 from Barcelona) were investigated. In the Würzburg group, the frequency of subjects homozygous or heterozygous for the mutation was significantly higher among schizophrenic patients than in controls. However, no difference could be detected in the Spanish sample; the possible reasons for the different allele distribution in the two patient groups is discussed. It is concluded that the CNTF null mutation may be relevant to the aetiopathogenesis of schizophrenia in some patients, but further work is required to identify specifically the patient group for which it is important.
authors.affiliation: Department of Psychiatry, University of Würzburg, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Thome
authors.forename: N
authors.initials: N
authors.lastname: Durany
authors.forename: A
authors.initials: A
authors.lastname: Harsányi
authors.forename: P
authors.initials: P
authors.lastname: Foley
authors.forename: A
authors.initials: A
authors.lastname: Palomo
authors.forename: J
authors.initials: J
authors.lastname: Kornhuber
authors.forename: H G
authors.initials: HG
authors.lastname: Weijers
authors.forename: A
authors.initials: A
authors.lastname: Baumer
authors.forename: M
authors.initials: M
authors.lastname: Rösler
authors.forename: F F
authors.initials: FF
authors.lastname: Cruz-Sánchez
authors.forename: H
authors.initials: H
authors.lastname: Beckmann
authors.forename: P
authors.initials: P
authors.lastname: Riederer
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D020934:Ciliary Neurotrophic Factor; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009414:Nerve Growth Factors / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012559:Schizophrenia / Q000235:genetics*
chemical_list: D020934:Ciliary Neurotrophic Factor; D009414:Nerve Growth Factors; D009419:Nerve Tissue Proteins