Genetic variation in PARL influences mitochondrial content
dc.contributor.author | Curran, J. | |
dc.contributor.author | Jowett, J. | |
dc.contributor.author | Abraham, L. | |
dc.contributor.author | Diepeveen, L. | |
dc.contributor.author | Elliott, K. | |
dc.contributor.author | Dyer, T. | |
dc.contributor.author | Kerr-Bayles, L. | |
dc.contributor.author | Johnson, M. | |
dc.contributor.author | Comuzzie, A. | |
dc.contributor.author | Moses, Eric | |
dc.contributor.author | Walder, K. | |
dc.contributor.author | Collier, G. | |
dc.contributor.author | Blangero, J. | |
dc.contributor.author | Kissebah, A. | |
dc.date.accessioned | 2017-01-30T11:00:22Z | |
dc.date.available | 2017-01-30T11:00:22Z | |
dc.date.created | 2016-09-12T08:37:04Z | |
dc.date.issued | 2010 | |
dc.identifier.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. | |
dc.identifier.uri | http://hdl.handle.net/20.500.11937/7519 | |
dc.identifier.doi | 10.1007/s00439-009-0756-0 | |
dc.description.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. | |
dc.title | Genetic variation in PARL influences mitochondrial content | |
dc.type | Journal Article | |
dcterms.source.volume | 127 | |
dcterms.source.number | 2 | |
dcterms.source.startPage | 183 | |
dcterms.source.endPage | 190 | |
dcterms.source.issn | 0340-6717 | |
dcterms.source.title | Human Genetics | |
curtin.department | School of Biomedical Sciences | |
curtin.accessStatus | Fulltext not available |
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