Analysis of PARK2 gene exon rearrangements in Russian patients with sporadic Parkinson's disease§

Authors


  • Funding agencies: Funding was provided by grants from Russian Basic Research Foundation (Grants #07-04-01511-a and #09-04-01237-a), Russian Academy of Sciences program “Molecular and Cellular Biology,” Russian Academy of Sciences program “Basic Sciences for Medicine,” and State Contracts P1055 and P419.

  • Relevant conflicts of interest/financial disclosures: Nothing to report.

  • §

    Full financial disclosures and author roles may be found in the online version of this article.

    This article first published online ahead of print on September 13, 2011. The article has since changed. Data in Table 1 have been updated. Corrected proofs will appear in print.

Abstract

Background:

Deletions and duplications of single exons or exon groups account for a large proportion of the PARK2 gene mutations described in juvenile autosomal recessive Parkinson's disease (PD).

Methods:

We analyzed rearrangements in exons 1 to 12 of the PARK2 gene in Russian sporadic patients with early-onset PD (EOPD) and late-onset PD (LOPD).

Results:

The frequency of EOPD and LOPD patients carrying these mutations was 12.4% and 3.8%, respectively. The most frequent rearrangements were detected in exons 3 and 4. The odds ratio for EOPD in individuals carrying PARK2 exon deletions and duplications was 13.95 (95% confidence interval [CI], 1.846–105.46; P = .0022). In addition, we found a correlation between exon rearrangements in PARK2 and the age at onset of PD, presence of dystonia, and symmetrical course of the disease.

Conclusions:

Exon rearrangements in the PARK2 gene play a significant role in the pathogenesis of sporadic PD in Russian patients. © 2011 Movement Disorder Society

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