DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients

Neurosci Lett. 2013 Dec 17;557 Pt B(PB):165-70. doi: 10.1016/j.neulet.2013.10.048. Epub 2013 Oct 28.

Abstract

We analyzed the DJ1 gene in a large consecutive series (N=163) of Italian unrelated Early Onset Parkinson Disease (EOPD: onset ≤40 years of age) patients and 100 healthy controls (mean age 64 ± 7 years). No homozygous or compound heterozygous mutations with an obvious pathogenic effect were found. Several variants were identified, some of which were novels. All variants had similar frequency in patients and in controls. Our data suggest that DJ1 mutations are very rare in Italian EOPD. Other genes and risk factors for PD are still to be identified.

Keywords: DJ1; Early Onset Parkinson Disease; Mutation analysis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Cohort Studies
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Italy
  • Male
  • Multiplex Polymerase Chain Reaction
  • Oncogene Proteins / genetics*
  • Parkinsonian Disorders / genetics*
  • Protein Deglycase DJ-1
  • Reverse Transcriptase Polymerase Chain Reaction
  • White People
  • Young Adult

Substances

  • Intracellular Signaling Peptides and Proteins
  • Oncogene Proteins
  • PARK7 protein, human
  • Protein Deglycase DJ-1