Revisiting DARPP-32 in postmortem human brain: changes in schizophrenia and bipolar disorder and genetic associations with t-DARPP-32 expression

Mol Psychiatry. 2014 Feb;19(2):192-9. doi: 10.1038/mp.2012.174. Epub 2013 Jan 8.

Abstract

Dopamine- and cAMP-regulated phosphoprotein of molecular weight 32 kDa (DARPP-32 or PPP1R1B) has been of interest in schizophrenia owing to its critical function in integrating dopaminergic and glutaminergic signaling. In a previous study, we identified single-nucleotide polymorphisms (SNPs) and a frequent haplotype associated with cognitive and imaging phenotypes that have been linked with schizophrenia, as well as with expression of prefrontal cortical DARPP-32 messenger RNA (mRNA) in a relatively small sample of postmortem brains. In this study, we examined the association of expression of two major DARPP-32 transcripts, full-length (FL-DARPP-32) and truncated (t-DARPP-32), with genetic variants of DARPP-32 in three brain regions receiving dopaminergic input and implicated in schizophrenia (the dorsolateral prefrontal cortex (DLPFC), hippocampus and caudate) in a much larger set of postmortem samples from patients with schizophrenia, bipolar disorder, major depression and normal controls (>700 subjects). We found that the expression of t-DARPP-32 was increased in the DLPFC of patients with schizophrenia and bipolar disorder, and was strongly associated with genotypes at SNPs (rs879606, rs90974 and rs3764352), as well as the previously identified 7-SNP haplotype related to cognitive functioning. The genetic variants that predicted worse cognitive performance were associated with higher t-DARPP-32 expression. Our results suggest that variation in PPP1R1B affects the abundance of the splice variant t-DARPP-32 mRNA and may reflect potential molecular mechanisms implicated in schizophrenia and affective disorders.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Animals
  • Antipsychotic Agents / pharmacology
  • Bipolar Disorder / genetics
  • Bipolar Disorder / metabolism*
  • Brain / drug effects
  • Brain / growth & development
  • Brain / metabolism*
  • Child
  • Child, Preschool
  • Depressive Disorder, Major / genetics
  • Depressive Disorder, Major / metabolism
  • Dopamine and cAMP-Regulated Phosphoprotein 32 / genetics*
  • Dopamine and cAMP-Regulated Phosphoprotein 32 / metabolism*
  • Female
  • Fetus
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Rats
  • Rats, Sprague-Dawley
  • Schizophrenia / drug therapy
  • Schizophrenia / genetics
  • Schizophrenia / metabolism*

Substances

  • Antipsychotic Agents
  • Dopamine and cAMP-Regulated Phosphoprotein 32
  • PPP1R1B protein, human