Mutations in VPS26A are not a frequent cause of Parkinson's disease

Eva Koschmidder, Brit Mollenhauer, Meike Kasten, Christine Klein, Katja Lohmann*

*Corresponding author for this work
    6 Citations (Scopus)

    Abstract

    VPS35 mutations have been identified as a cause of autosomal dominantly inherited Parkinson's disease (PD). VPS35 interacts with VPS26A in the retromer complex that links mitochondrial and lysosomal pathways, which have both been shown to be dysfunctional in PD. Thus, mutations in VPS26A may be associated with PD. To test this hypothesis, we screened 245 idiopathic PD patients and 185 control subjects for mutations in the retromer subunit VPS26A. We found 2 novel missense variants in patients and 2 known missense variants in control subjects. The missense variants were unlikely to be disease causing, suggesting that VPS26A mutations are not a frequent cause of PD.

    Original languageEnglish
    JournalNeurobiology of Aging
    Volume35
    Issue number6
    ISSN0197-4580
    DOIs
    Publication statusPublished - 01.06.2014

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