title: Gly(247)-->Asp proenkephalin A mutation is rare in schizophrenia populations.
abstract: Schizophrenia is a complex and severe disorder of unknown cause and pathophysiology. In previous work examining an opioid hypothesis for schizophrenia, we identified a missense mutation (Gly(247)-->Asp) in the proenkephalin A gene of one African-American patient. In the current study involving an extended set of African-American and other patients, we sought to identify additional mutant alleles and to determine the distribution of these alleles among several racial groups. However, the Gly(247)-->Asp allele was not detected in any of 116 African-American (67 cases, 49 controls), 659 Caucasian, 1 Hispanic, 4 Asian, and 7 Native American individuals. Therefore, it appears that this mutation is a rare event of unknown clinical significance.
authors.affiliation: Department of Biochemistry and Molecular Biology, Mayo Foundation, Rochester, Minnesota, USA.
authors.forename: M J
authors.initials: MJ
authors.lastname: Mikesell
authors.forename: Y D
authors.initials: YD
authors.lastname: Barron
authors.forename: V L
authors.initials: VL
authors.lastname: Nimgaonkar
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: D001224:Aspartic Acid / Q000235:genetics*; D004745:Enkephalins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D005998:Glycine / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D011498:Protein Precursors / Q000737:chemistry / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*
chemical_list: D004745:Enkephalins; D011498:Protein Precursors; C029992:proenkephalin; D001224:Aspartic Acid; D005998:Glycine