Human Reproduction, Vol. 16, No. 3, 513-516,
March 2001
© 2001 European Society of Human Reproduction and Embryology
Mitochondria in human offspring derived from ooplasmic transplantation: Brief communication
Gamete and Embryo Research Laboratory, Institute for Reproductive Medicine and Science of Saint Barnabas, West Orange, New Jersey, USA
Ooplasmic transfer from fertile donor oocytes into potentially compromised recipient patient oocytes has led to the birth of nearly 30 babies worldwide. Cytoplasmic transplantation has caused apprehension, since the mixing of human ooplasm from two different maternal sources may generate mitochondrial (mt) heteroplasmy (both recipient and donor mtDNA) in offspring. This investigation traced the mitochondrial donor population both during the ooplasmic transfer technique and in the bloods of two 1 year old children using mtDNA fingerprinting. Donor ooplasm stained for active mitochondria was transferred into recipient ooplasm and the mitochondria were visualized by confocal microscopy after the microinjection procedure and fertilization. Heteroplasmy was found in the blood from each of the children. This report is the first case of human germline genetic modification resulting in normal healthy children.
Key words: assisted reproduction/human oocytes/mtDNA fingerprinting/mitochondrial heteroplasmy/ooplasmic transplantation
1 To whom correspondence should be addressed: IRMS-SBMC, 101 Old Short Hills Road, Suite #501, West Orange, New Jersey, 07052, USA
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