GENEALOGY-DNA-L Archives

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Subject: [DNA] OT PubMed abstract: mitochondrial function
Date: Tue, 1 May 2007 12:46:25 EDT

This abstract isn't relevant for genetic genealogy, but it serves as a
reminder that mitochondrial *function* involves much more than the few genes found
in mtDNA.

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Hum Mol Genet. 2007 Apr 27; [Epub ahead of print]

Genetic Determinants of Mitochondrial Content.

Curran JE, Johnson MP, Dyer TD, Goring HH, Jack WK Jr, Charlesworth JC, Borg
AJ, Jowett JB, Cole SA, Maccluer JW, Kissebah AH, Moses EK, Blangero J.

Genetics, Southwest Foundation for Biomedical Research, San Antonio, Texas
78227, USA.

The mitochondria are the major cellular site of energy production and
respiration. Recent research has focused on investigating the role of mitochondria in
disease development and it has become increasingly evident that mitochondrial
dysfunction contributes to a variety of human diseases. Mitochondrial DNA
(mtDNA) quantity is very important for maintaining mitochondrial function and
meeting the energy needs of the body. We have measured mitochondrial content in
1,259 Mexican American individuals (from 42 extended families) and have shown
that mtDNA quantity (a surrogate measure of mitochondrial integrity) has a
large genetic component. We performed a genome scan and a genome-wide quantitative
transcriptomic scan to identify QTLs influencing mitochondrial content. A
variance components linkage-based genome scan utilizing 439 STR markers was used
to localize a QTL for mitochondrial content on chromosome 10q (LOD = 3.83).
Significant linkage to the mitochondrial genome was also detected for
mitochondrial transmission (LOD = 3.39). For replication, we measured mitochondrial
content in an independent Caucasian population (1,088 individuals) finding
evidence for linkage in these same regions. As part of the San Antonio Family Heart
Study, we obtained genome-wide quantitative transcriptional profiles from 1,240
individuals. Using lymphocyte samples, we quantitated 20,413 transcripts and
examined correlations between the expression levels of these transcripts and
mitochondrial content using the variance components method. Using regression
analysis allowing for residual genetic components, we identified 829 transcripts
(including many novel genes) influencing mitochondrial content that vary in
their general biological actions, from cell signaling to cell trafficking and
ion binding.

PMID: 17468176 [PubMed - as supplied by publisher]



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