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The federal government is considering whether to allow scientists to take a controversial step: make changes in some of the genetic material in a woman's egg that would be passed down through generations.
This micrograph shows a single mitochondrion (yellow), one of many little energy factories inside a cell. Keith R. Porter/Science Source
Mark Sauer of the Columbia University Medical Center, a member of one of two teams of U.S. scientists pursuing the research, calls the effort to prevent infants from getting devastating genetic diseases "noble." Sauer says the groups are hoping "to cure disease and to help women delivery healthy normal children."
But the research also raises a variety of concerns, including worries it could open the door to creating "designer babies." The Food and Drug Administration has scheduled an Oct. 22 hearing to consider the issues.
Specifically, the research would create an egg with healthy mitochondrial DNA (mtDNA). Unlike the DNA that most people are familiar with — the 23 pairs of human chromosomes that program most of our body processes — mtDNA is the bit of genetic material inside mitochondria, living structures inside a cell that provide its energy. NPR
The big problem is that no one knows what effects this will have on the children or their progeny.
In fact, this substitution of mitochondria hasn’t been studied extensively on animals, never mind
Homo sapiens. The doctors reported that the kids are healthy, but they neglected to mention something crucial. Although the fertility clinic’s technique resulted in fifteen babies, a total of seventeen fetuses had been created.
One of them had been aborted, and the other miscarried.
Why? Both of them had a rare genetic disorder, Turner syndrome, which only strikes females.
Ordinarily, just one in 2,500 females is born with this condition, in which one of the X chromosomes is incomplete or totally missing. Yet two out of these seventeen fetuses had developed it.
If we assume that nine of the fetuses were female (around 50 percent), then two of the nine
female fetuses had this rare condition. Internal documents from the fertility clinic admit that this
amazingly high rate might be due to the ooplasmic transfer.
Even before the revelation about Turner syndrome became known, many experts were appalled
that the technique had been used. A responding article in Human Reproduction said, in a dry
understatement: “Neither the safety nor efficacy of this method has been adequately
investigated.” Ruth Deech, chair of Britain’s Human Fertilization and Embryology Authority, told
the BBC: “There is a risk, not just to the baby, but to future generations which we really can’t
assess at the moment.”
The number of children who have been born as a result of this technique is unknown. The
original article gave the number as “nearly thirty,” but this was in early 2001. At that time, at least
two of the mutant children were already one year old.
Dr. Joseph Cummin, professor emeritus of biology at the University of Western Ontario, says that
no further information about these 30 children has appeared in the medical literature or the
media. As far as additional children born with two mommies and a daddy, Cummin says that a
report out of Norway in 2003 indicated that ooplasmic transfer has been used to correct
mitochondrial disease. He opines: “It seems likely that the transplants are going on, but very, very
quietly in a regulatory vacuum, perhaps.”
In the mid-1990s, embryologist Jacques Cohen pioneered a promising new technique for helping infertile women have children. His technique, known as cytoplasmic transfer, was intended to “rescue” the eggs of infertile women who had undergone repeated, unsuccessful attempts at in vitro fertilization, or IVF. It involved injecting the cytoplasm found inside the eggs of a fertile donor, into the patient’s eggs.
When the first baby conceived through cytoplasmic transfer was born in 1997, the press instantly hailed Cohen’s technique as yet another technological miracle. But four years later, the real story has proven somewhat more complicated. Last year, Cohen and his colleagues at the Institute for Reproductive Medicine and Science of St. Barnabas, a New Jersey fertility clinic, set off alarm bells among bioethicists with the publication of a paper detailing the genetic condition of two the 17 cytoplasmic-transfer babies born through the clinic to date. The embryologists reported that they had endowed the children with extra bits of a special type of genetic material, known as mitochondrial DNA, or mtDNA, which came with the cytoplasm transferred from the donor eggs to the patient’s.
Just how normal those children will turn out to be is anybody’s guess. At a recent meeting in Europe, the New Jersey researchers reported that one of the children conceived through cytoplasmic transfer has been diagnosed with “pervasive developmental disorder,” a catch-all term for symptoms that range from mild delays in speech to autism. Cohen’s group maintained that it is extremely unlikely that cytoplasmic transfer and the resulting mishmash of mtDNA is to blame.
But geneticists have only begun to trace the connections between mtDNA and a host of diseases ranging from strange metabolic ailments to diabetes and Lou Gehrig’s disease, and some experts argued that the child’s disorder may well be caused by a mismatch between the donor and mother’s mtDNA. As Jim Cummins, a molecular biologist at Murdoch University in Western Australia, put it: “To deliberately create individuals with multiple mitochondrial genotypes without knowing the consequences is really a step into the dark.”
'It is a further and very worrying step down the wrong road for humanity.' Professor Cohen and his colleagues diagnosed that the women were infertile because they had defects in tiny structures in their egg cells, called mitochondria.
They took eggs from donors and, using a fine needle, sucked some of the internal material - containing 'healthy' mitochondria - and injected it into eggs from the women wanting to conceive.
Because mitochondria contain genes, the babies resulting from the treatment have inherited DNA from both women. These genes can now be passed down the germline along the maternal line.
A spokesman for the Human Fertilisation and Embryology Authority (HFEA), which regulates 'assisted reproduction' technology in Britain, said that it would not license the technique here because it involved altering the germline.
Jacques Cohen is regarded as a brilliant but controversial scientist who has pushed the boundaries of assisted reproduction technologies.
He developed a technique which allows infertile men to have their own children, by injecting sperm DNA straight into the egg in the lab.
Prior to this, only infertile women were able to conceive using IVF. Last year, Professor Cohen said that his expertise would allow him to clone children --a prospect treated with horror by the mainstream scientific community.
'It would be an afternoon's work for one of my students,' he said, adding that he had been approached by 'at least three' individuals wishing to create a cloned child, but had turned down their requests
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