title: Identification of a missense mutation and several polymorphisms in the proenkephalin A gene of schizophrenic patients.
abstract: Schizophrenia is a complex and severe disorder of unknown cause and pathophysiology. In this study, we examined the opioid hypothesis for schizophrenia at the molecular level, focusing on the dopamine-regulated proenkephalin A gene (chromosome 8q11.23-q12). We have screened 150 schizophrenic patients for sequence variations within the promoter region, entire coding sequence, and 3'-untranslated region. We find one sequence change in a conserved amino acid that may be of functional significance. This mutation was found in a single schizophrenia patient but not in controls. Although several new, race-specific polymorphisms were identified, all other sequence changes appeared to be common polymorphisms, unlikely to contribute to the etiology of schizophrenia.
authors.affiliation: Department of Biochemistry, Mayo Foundation Rochester, Minnesota 55905, USA.
authors.forename: M J
authors.initials: MJ
authors.lastname: Mikesell
authors.forename: J L
authors.initials: JL
authors.lastname: Sobell
authors.forename: S S
authors.initials: SS
authors.lastname: Sommer
authors.forename: C T
authors.initials: CT
authors.lastname: McMurray
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D003062:Codon; D017124:Conserved Sequence; D004745:Enkephalins / Q000235:genetics*; D005091:Exons; D014644:Genetic Variation; D006801:Humans; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D011498:Protein Precursors / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*
chemical_list: D003062:Codon; D004745:Enkephalins; D011498:Protein Precursors; C029992:proenkephalin