Postmortem investigations of the pathophysiology of schizophrenia: The role of susceptibility genes

William R. Perlman, Cynthia Shannon Weickert, Mayada Akil, Joel E. Kleinman

Research output: Contribution to journalArticlepeer-review

Abstract

Despite robust evidence for the heritability of schizophrenia, postmortem studies have not traditionally linked cellular and molecular neuropathology with underlying genetic mechanisms in this disorder. The completion of the first draft of the Human Genome Project and the use of novel strategies in studying complex genetic disorders including schizophrenia have led to the identification of a growing list of schizophrenia susceptibility genes. In this review, we describe the strategy used to incorporate 2 potential schizophrenia susceptibility genes in the postmortem investigation of the pathophysiology of schizophrenia driven by 2 well-established hypotheses, the dopamine hypothesis and the neurodevelopmental hypothesis. The first gene codes for catechol-O-methyltransferase, an enzyme involved in catecholamine degradation, and the second gene codes for brain-derived neurotrophic factor, a growth factor implicated in cell survival, synaptogenesis and the development of cortical pyramidal neurons.

Original languageEnglish (US)
Pages (from-to)287-293
Number of pages7
JournalJournal of Psychiatry and Neuroscience
Volume29
Issue number4
StatePublished - Jul 2004
Externally publishedYes

Keywords

  • Brain-derived neurotrophic factor
  • Catechol-O-methyltransferase
  • Dopamine
  • Genetic predisposition to disease
  • Glutamate
  • Prefrontal cortex
  • Schizophrenia
  • Substantia nigra
  • Tyrosine hydroxylase

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Biological Psychiatry
  • Pharmacology (medical)

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