Analysis of PITX3 gene in patients with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration

Ann Clin Lab Sci. 2013 Spring;43(2):151-3.

Abstract

Interactions of transcriptions factors Nurr1, Pitx3, and EN1 are involved in the maturation and survival of adult midbrain dopaminergic neurons during a lifetime. The aim of the study was to evaluate the presence of mutations and single nucleotide polymorphisms in PITX3 gene in clinically diagnosed multisystem atrophy (MSA), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD). In the group of 77 patients with MSA, 44 with PSP, and 6 with CBD, no pathogenic mutations were identified.

Keywords: Corticobasal Degeneration; Multisystem atrophy; PITX3 gene; Progressive Supranuclear Palsy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Basal Ganglia / pathology
  • Cerebral Cortex / pathology
  • DNA Primers / genetics
  • Female
  • Genetic Association Studies
  • Homeodomain Proteins / genetics*
  • Humans
  • Male
  • Middle Aged
  • Multiple System Atrophy / genetics*
  • Mutation / genetics
  • Neurodegenerative Diseases / genetics*
  • Neurodegenerative Diseases / pathology
  • Poland
  • Polymorphism, Single Nucleotide / genetics
  • Supranuclear Palsy, Progressive / genetics*
  • Transcription Factors / genetics*

Substances

  • DNA Primers
  • Homeodomain Proteins
  • Transcription Factors
  • homeobox protein PITX3