Genetic variation in PARL influences mitochondrian content

Curran, Joanne E, Jowett, Jeremy B. M., Abraham, Lawrence J., Diepeveen, Luke A., Elliott, Katherine S., Dyer, Thomas D., Kerr-Bayles, Lyndal J., Johnson, Matthew P., Comuzzie, Anthony G., Moses, Eric K., Walder, Ken R., Collier, Gregory R., Blangero, John and Kissebah, Ahmed H. 2010, Genetic variation in PARL influences mitochondrian content, Human genetics, vol. 127, no. 2, pp. 183-190, doi: 10.1007/s00439-009-0756-0.

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Title Genetic variation in PARL influences mitochondrian content
Author(s) Curran, Joanne E
Jowett, Jeremy B. M.
Abraham, Lawrence J.
Diepeveen, Luke A.
Elliott, Katherine S.
Dyer, Thomas D.
Kerr-Bayles, Lyndal J.
Johnson, Matthew P.
Comuzzie, Anthony G.
Moses, Eric K.
Walder, Ken R.ORCID iD for Walder, Ken R.
Collier, Gregory R.
Blangero, John
Kissebah, Ahmed H.
Journal name Human genetics
Volume number 127
Issue number 2
Start page 183
End page 190
Total pages 8
Publisher Springer
Place of publication Heidelberg, Germany
Publication date 2010-02-28
ISSN 0340-6717
Summary 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 inXuence 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 signiWcant eVects (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 inXuences mitochondrial abundance and integrity.
Notes Published online: 28 October 2009
Language eng
DOI 10.1007/s00439-009-0756-0
Field of Research 110107
Socio Economic Objective 920104
HERDC Research category C1 Refereed article in a scholarly journal
Copyright notice ©2009, Springer-Verlag
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Document type: Journal Article
Collections: Faculty of Health
School of Medicine
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