Mitochondrial DNA as a readout of embryo cellularity
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When thinking about the human genome, it is easy to forget that, aside from the DNA found in the cell’s nucleus, some of our genetic material is located in mitochondria. Mitochondrial DNA (mtDNA) is formatted in circular molecules containing genes necessary for mitochondrial function and therefore essential for the cell’s survival. Each human cell contains a varying number of mitochondrial organelles and each mitochondrion can contain numerous copies of mtDNA. This copy number is not static and can change according to the energetic demand experienced by its host tissue.
The furor caused by reports correlating high mtDNA copy number with embryonic inviability was quickly met by other studies challenging those observations. After much discussion about appropriate technical and analytical methods of mtDNA quantitation and additional papers in both camps, it now appears that using mtDNA copy number as a biomarker for implantation might be valuable in some centers but not in others. Why?