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PGD for mtDNA mutations: Controversial questions
How will you decide what is an acceptable level of mutation?
What do you do if all the embryos that you test exceed your safe point?
What do you do if the only embryo that you have to test exceeds your safe point?
1. Unfertilised patient’s egg with abnormal mitochondria
2. Spindle and associated chromosomes removed as karyoplast from patient’s egg and fused into “enucleated” donor egg
3. Reconstituted egg is fertilised (by ICSI) with sperm from patient’s partner
2nd polar body
spindle
1st polar body
MST = maternal spindle transfer
Unfertiliseddonated Spindleandassociated
egg with normal mitochondria
chromosomes removed as karyoplast from donated egg and discarded
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4.Cleaving embryo with (mostly) normal mitochondria and a maternal and a paternal genome