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  • A novel screen for nuclear mitochondrial gene associations with Parkinson’s disease

    Author(s)
    Mellick, GD
    Silburn, PA
    Prince, JA
    Brookes, AJ
    Griffith University Author(s)
    Mellick, George
    Year published
    2004
    Metadata
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    Abstract
    Genetic factors play an important role in the aetiology of Parkinsons disease (PD). We have screened nuclear genes encoding subunits of mitochondrial complex I for associations between single nucleotide polymorphisms (SNPs) and PD. Abnormal functioning of complex I is well documented in human PD. Moreover, toxicological inhibition of complex I can lead to parkinsonism in animals. Thus, commonly occurring variants in these genes could potentially influence complex I function and the risk of developing PD. A sub-set of 70 potential SNPs in 31 nuclear complex I genes were selected and association analysis was performed on 306 ...
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    Genetic factors play an important role in the aetiology of Parkinsons disease (PD). We have screened nuclear genes encoding subunits of mitochondrial complex I for associations between single nucleotide polymorphisms (SNPs) and PD. Abnormal functioning of complex I is well documented in human PD. Moreover, toxicological inhibition of complex I can lead to parkinsonism in animals. Thus, commonly occurring variants in these genes could potentially influence complex I function and the risk of developing PD. A sub-set of 70 potential SNPs in 31 nuclear complex I genes were selected and association analysis was performed on 306 PD patients plus 321 unaffected control subjects. Genotyping was performed using the DASH method. There was no evidence that the examined SNPs were significant genetic risk factors for PD, although this initial screen could not exclude the possibility that other disease-influencing variations exist within these genes.
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    Journal Title
    Journal of Neural Transmission
    Volume
    111
    Issue
    2
    DOI
    https://doi.org/10.1007/s00702-003-0085-8
    Subject
    Neurosciences
    Publication URI
    http://hdl.handle.net/10072/25102
    Collection
    • Journal articles

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