Gly(247)-->Asp proenkephalin A mutation is rare in schizophrenia populations.
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.
Mikesell
M J
MJ
Department of Biochemistry and Molecular Biology, Mayo Foundation, Rochester, Minnesota, USA.
Barron
Y D
YD
Nimgaonkar
V L
VL
Sobell
J L
JL
Sommer
S S
SS
McMurray
C T
CT
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*
D004745:Enkephalins; D011498:Protein Precursors; C029992:proenkephalin; D001224:Aspartic Acid; D005998:Glycine