Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism

Parkinsonism Relat Disord. 2009 May;15(4):324-6. doi: 10.1016/j.parkreldis.2008.07.001. Epub 2008 Aug 22.

Abstract

In this study we analysed the DJ-1 gene in 40 sporadic patients with early onset Parkinson's disease and 100 appropriate controls, originated from southern Italy. We identified a single patient with age at onset of 38 years carrying two previously undescribed heterozygous mutations, both located in non-coding regions. The first mutation was a nucleotide change in the promoter region of the gene (g.159C>G) and the second one was an insertion in the intron 4 splice site (IVS4+3insA). In the same patient, genomic rearrangements were excluded. No DJ-1 mutations were found in the remaining parkinsonian patients. Our results support the growing importance of mutations in non-coding portion of human genome, and confirm that alterations in DJ-1 are a cause, even if rare, of early-onset Parkinson's disease.

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Heterozygote
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Oncogene Proteins / genetics*
  • Parkinsonian Disorders / genetics*
  • Promoter Regions, Genetic / genetics*
  • Protein Deglycase DJ-1

Substances

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