A paper just came out in Nature yesterday entitled:
Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants
It’s surely risky of me to say this, but is this paper really a clinically-relevant breakthrough for mitocondrial disease worthy of a Nature paper?
The study as science is fine and very interesting, but it seems quite questionable to me to so strongly invoke clinical relevance as they do (even if they say some stuff must be discussed first):
Before proceeding with human clinical trials on the transfer of the maternal genome, it will be important to publicly discuss patient needs, ethical considerations, and to establish appropriate guidelines for the use of oocyte nuclear genome transfer in assisted reproduction.
The abstract also ends claiming clinical relevance:
These results demonstrate the potential of nuclear genome transfer to prevent the transmission of mitochondrial disorders in humans.
Finally, the paper is also discussed in a Forbes blog piece by friend John Farrell that calls it a “breakthrough”. I like John’s blog a great deal (hi, John), but I think we part ways about this paper.
The claim that this has clinical relevance in the real world is at best wishful thinking.
Why am I so skeptical?
In the hypothetical context of real-world assisted reproduction, moving one oocyte nucleus into the enucleated oocyte of another person could trigger all kinds of devastating problems (most likely through epigenetic changes) that might not manifest until you try to make a human being out of it.
Then it’s too late.