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    Genetic variation in PARL influences mitochondrial content

    Access Status
    Fulltext not available
    Authors
    Curran, J.
    Jowett, J.
    Abraham, L.
    Diepeveen, L.
    Elliott, K.
    Dyer, T.
    Kerr-Bayles, L.
    Johnson, M.
    Comuzzie, A.
    Moses, Eric
    Walder, K.
    Collier, G.
    Blangero, J.
    Kissebah, A.
    Date
    2010
    Type
    Journal Article
    
    Metadata
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    Citation
    Curran, J. and Jowett, J. and Abraham, L. and Diepeveen, L. and Elliott, K. and Dyer, T. and Kerr-Bayles, L. et al. 2010. Genetic variation in PARL influences mitochondrial content. Human Genetics. 127 (2): pp. 183-190.
    Source Title
    Human Genetics
    DOI
    10.1007/s00439-009-0756-0
    ISSN
    0340-6717
    School
    School of Biomedical Sciences
    URI
    http://hdl.handle.net/20.500.11937/7519
    Collection
    • Curtin Research Publications
    Abstract

    Given their involvement in processes necessary for life, mitochondrial damage and subsequent dysfunction can lead to a wide range of human diseases. Previous studies of both animal models and humans have suggested that presenilins-associated rhomboid-like protein (PARL) is a key regulator of mitochondrial integrity and function, and plays a role in cellular apoptosis. As a surrogate measure of mitochondrial integrity, we previously measured mitochondrial content in a Caucasian population consisting of large extended pedigrees, with results highlighting a substantial genetic component to this trait. To assess the influence of variation in the PARL gene on mitochondrial content, we re-sequenced 6.5 kb of the gene, identifying 16 SNPs and genotyped these in 1,086 Caucasian individuals, distributed across 170 families. Statistical genetic analysis revealed that one promoter variant, T-191C, exhibited significant effects (after correction for multiple testing) on mitochondrial content levels. Comparison of the transcription factor binding characteristics of the T-191C promoter SNP by EMSA indicates preferential binding of nuclear factors to the T allele, suggesting functional variation in PARL expression. These results suggest that genetic variation within PARL influences mitochondrial abundance and integrity. © 2009 Springer-Verlag.

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