Genetics in Medicine

FIGURES AND TABLES

FROM:

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

BACK TO ARTICLE
Fig. 1 - Unfortunately we are unable to provide accessible alternative text for this. If you require assistance to access this image, please contact help@nature.com or the author

Fig. 1.

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.

Full figure and legend (117K)
Fig. 2 - Unfortunately we are unable to provide accessible alternative text for this. If you require assistance to access this image, please contact help@nature.com or the author

Fig. 2.

Ages (years) of the grandmothers at birth of mother who has a child with sporadic ΔmtDNA. Data includes single deletion maternal grandmothers, healthy control paternal grandmothers, and mitochondrial point mutation control maternal grandmothers.

Full figure and legend (50K)
BACK TO ARTICLE