The PLA2G6 gene in early-onset Parkinson's disease.

BACKGROUND: The definite etiology of neurodegenerative disorders such as Parkinson's disease (PD) is still unknown. Because of its role in the generation of reactive oxygen species and its association with neurodegeneration with brain iron accumulation, a possible involvement of calcium-independent group VI phospholipase A(2) (iPLA(2)-VI) in the pathogenesis of PD has been proposed.
METHODS: In this study we analyzed all 17 exons of the PLA2G6 gene encoding iPLA(2)-VI in a group of 102 discordant pairs with early-onset Parkinson's disease (EOPD) and an additional sample of 166 EOPD patients and 155 unrelated controls.
RESULTS: The nonsynonymous single-nucleotide polymorphisms (SNPs) 2339A>G (n = 2) and 2341G>A (n = 1) in 2 neighboring codons were found in 3 patients with typical L-dopa-responsive sporadic EOPD and in none of our controls, indicating a possible role of PLA2G6 in the pathogenesis of EOPD in rare cases.
CONCLUSIONS: Future studies should investigate the prevalence of these SNPs in other PD populations and larger control groups and also address possible genetic alterations in the remaining parts of the PLA2G6 gene.