Genetics in Medicine

FIG. 1


Older mothers are not at risk of having grandchildren with sporadic mtDNA deletions

Joanna L Elson, Shehnaz Apabhai, Grainne Gorman, Roger G Whittaker and Kim J Krishnan


Fig. 1.

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Schematic diagram to show how grandmothers oocytes could lead to a single ΔmtDNA patient. Human oocytes contain ~500,000 mtDNA molecules. ΔmtDNA are reported to be present in ~50% of human oocytes. If an oocyte from the grandmother (F0) containing a ΔmtDNA is fertilized and escapes the mitochondrial bottleneck, it could be segregated to form primordial germ cells for the developing female fetus (F1). After rapid mtDNA amplification following the mitochondrial bottleneck this primordial germ cell will become a mature oocyte and have high levels of the ΔmtDNA. If this oocyte is fertilized, an affected individual (F2) will be born.