Association study indicates a protective role of phosphatidylinositol-4-phosphate-5-kinase against tardive dyskinesia

Int J Neuropsychopharmacol. 2014 Dec 28;18(6):pyu098. doi: 10.1093/ijnp/pyu098.

Abstract

Background: Tardive dyskinesia is a disorder characterized by involuntary muscle movements that occur as a complication of long-term treatment with antipsychotic drugs. It has been suggested to be related to a malfunctioning of the indirect pathway of the motor part of the cortical-striatal-thalamic-cortical circuit, which may be caused by oxidative stress-induced neurotoxicity.

Methods: The purpose of our study was to investigate the possible association between phosphatidylinositol-4-phosphate-5-kinase type IIa (PIP5K2A) function and tardive dyskinesia in 491 Caucasian patients with schizophrenia from 3 different psychiatric institutes in West Siberia. The Abnormal Involuntary Movement Scale was used to assess tardive dyskinesia. Individuals were genotyped for 3 single nucleotide polymorphisms in PIP5K2A gene: rs10828317, rs746203, and rs8341.

Results: A significant association was established between the functional mutation N251S-polymorphism of the PIP5K2A gene (rs10828317) and tardive dyskinesia, while the other 2 examined nonfunctional single nucleotide polymorphisms were not related.

Conclusions: We conclude from this association that PIP5K2A is possibly involved in a mechanism protecting against tardive dyskinesia-inducing neurotoxicity. This corresponds to our hypothesis that tardive dyskinesia is related to neurotoxicity at striatal indirect pathway medium-sized spiny neurons.

Keywords: PIP5K2A; gene polymorphism; medium spiny neurons; neurotoxicity; schizophrenia; tardive dyskinesia.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Antipsychotic Agents / adverse effects*
  • Dyskinesia, Drug-Induced / diagnosis
  • Dyskinesia, Drug-Induced / enzymology
  • Dyskinesia, Drug-Induced / genetics*
  • Dyskinesia, Drug-Induced / prevention & control
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Movement Disorders / diagnosis
  • Movement Disorders / enzymology
  • Movement Disorders / genetics*
  • Movement Disorders / prevention & control
  • Phenotype
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • Polymorphism, Single Nucleotide*
  • Protective Factors
  • Risk Assessment
  • Risk Factors
  • Schizophrenia / drug therapy*
  • Siberia
  • Young Adult

Substances

  • Antipsychotic Agents
  • PIP4K2A protein, human
  • Phosphotransferases (Alcohol Group Acceptor)