mitochondrial disease

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Tinkering With Baby’s Genes: FDA Reviews Controversial Fertility Technique

By Karen Weintraub
Guest Contributor

FDA hearings in Washington this week have raised an ethical quandary: If we have the scientific power to help a sick woman give birth to healthy children, should we do it? Even if it requires us to cross an ethical line in the sand drawn decades ago by hundreds of nations worldwide?

A reproductive biologist from the Oregon Health and Science University in Beaverton, Shoukhrat Mitalipov, has asked the federal government for permission to test an unprecedented gene replacement technique in people. If he succeeds, women with mitochondrial diseases will be able to have their own, biological children, without passing on their disease.

But some others worry that this research will open up an ethical Pandora’s Box, legitimizing human genome manipulation. Plus, they say, the science is premature. This technique has only been tested in a handful of monkeys and it’s way too early to try in people, they say.

At root is some pretty technical science in an area that’s not yet well understood.
Mitochondrial disease is driven by mistakes in the 37 genes that drive the mitochondria — which, as you might remember from freshman biology, provide every cell with energy. Mitochondria is passed down from mother to child; the father’s mitochondria dies with him.

Mitalipov wants to get rid of the mother’s flawed mitochondria and replace them with a healthy donor’s. He would take the nucleus of an egg cell from the sick woman and implant it in an egg cell from a healthy donor, after the donor’s nucleus has been removed. When the egg is fertilized, the 20,000 genes in the mother’s nuclear genome will mix with the same number from the father’s, plus 37 healthy genes from the mitochondria of the donor. The result, Mitalipov says, will be a normal child.

Not everyone agrees with that last point. Even if the child appears healthy, it’s possible that it will have genetic problems during development, later in life or that will only appear when that child has children.

Sharon and Alana Aaarinen/Photo: Karen Weintraub

Sharon and Alana Aaarinen/Photo: Karen Weintraub

One potential problem: some of the mother’s unhealthy mitochondria will survive the transfer and show up in the child, unnoticed perhaps for generations, before another descendent gets sick. Mitalipov says this is impossible, that his technique promises nearly 100 percent swap of mitochondria, but some scientists remain unconvinced.

Mixing mitochondria from two “mothers” can put mice at higher risk for diabetes, stroke and heart disease, according to research.

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The New Fertility Frontier: A Child With Three Biological Parents

Sharon and Alana Aaarinen (Karen Weintraub)

Sharon and Alana Aaarinen (Karen Weintraub)

Don’t miss this fascinating story by CommonHealth contributor Karen Weintraub detailing an ethically questionable new fertility treatment that involves three biological parents in order to avoid a rare but devastating mitochondrial disease.

Here’s the top of the piece, published in today’s New York Times:

Alana Saarinen sat at the piano, playing smoothly and with feeling. Behind her, plastic toys shared floor space with a book of plays she’d been writing. Her mother beamed.

Alana is apparently a normal, well-adjusted 13-year-old. But there is something extraordinary about her — every cell in her body is different in a way that is nearly unprecedented.

Alana was conceived with genetic material from three parents: Sharon and Paul Saarinen, who provided the egg and sperm, and a second woman who contributed genes to Alana’s mitochondria, the tiny power plants that fuel every cell.

The experimental technique making this possible — a cytoplasmic transfer, in Alana’s case — was halted by the Food and Drug Administration in 2001. Now, despite uncertainties about its safety, scientists in the United States and the United Kingdom are urging legalization of a more targeted version. Critics say it hasn’t been adequately studied and crosses the line into genetic engineering.

The story also explores the origins of the experimental cytoplasmic transfer and explains how the technique is being improved. Karen adds this in an email:

Researchers never followed the children born in the late 1990s and 2000s of this cytoplasm transfer technique, so it’s not clear what the risks are of this form of conception. Continue reading