Mitochondria in human offspring derived from ooplasmic transplantation: 
Brief communication 

Human Reproduction, v.16, n.3, 513-516, Mar01

Jason A. Barritt^,1, Carol A. Brenner, Henry E. Malter and Jacques Cohen

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
source: http://humrep.oupjournals.org/cgi/content/abstract/16/3/513

First cases of human germline genetic modification announced

British Medical Journal BMJ 2001;322:1144  12may01

Annabel Ferriman, BMJ

Scientists in the United States have reported the first cases of human germline genetic modification resulting in normal healthy children (Human Reproduction 2001;16:513-6).

They have created children with genes from three different people -- the children's parents and from women donors, part of whose egg cells were used in the in vitro fertilisation treatment. They admit that the resulting genetic modification could be passed on to future generations.

The scientists, from the Institute for Reproductive Medicine and Science at St Barnabas in New Jersey, said that 30 babies worldwide have been born as a result of the technique, known as ooplasmic transfer. It involves taking some of the mitochondria from a donor's egg cell and injecting them into the egg of a woman with infertility problems. The egg is then fertilised in vitro.

The researchers believed that some of the women were infertile because of defects in their mitochondria. Fifteen babies are believed to have been born as a result of the New Jersey programme.

Altering the germline is illegal in many countries, including Britain, however, and the US government will not provide funds for any experiment that intentionally or unintentionally alters inherited genes.

The scientists tested the blood of two of the resulting children, who had reached 1 year old, using genetic fingerprinting techniques, and they found that the children had mitochondrial DNA from the donor egg.

Their work was criticised by British experts in in vitro fertilisation. Robert Winston, professor of fertility studies at the Hammersmith Hospital, London, said that he had great reservations about it.

"Regarding the treatment of the infertile, there is no evidence that the technique is worth doing. I am very surprised that it was even carried out at this stage. It would certainly not be allowed in Britain." He added that, although the number of additional genes involved was tiny, it was in principle the wrong thing to do.

Mrs Ruth Deech, chairwoman of the Human Fertilisation and Embryology Authority, said that no evidence existed that the benefits of the treatment outweighed the dangers. Speaking on BBC Radio 4's Today programme, she said: "There is no doubt that some strands of DNA are carried over into the egg that creates this new baby. There is a risk, not just to the baby but to future generations which we really can't assess at the moment."

Any application to use the technique in Britain would be subject to the same rigorous checks as any other new fertility treatment, she said, adding that safety was the authority's top priority. "What we mustn't allow is this drive for a baby at any cost -- often fuelled by profit -- to dominate the need for safety, dignity, and responsibility."