In the current issue of Nature Genetics, researchers report that they've found mutations in genes that seem to protect against the development of Type 2 diabetes. They are called loss-of-function mutations, because they disrupt the genes enough so that the genes no longer work.
This is a big deal for two reasons: The mutations offer a lot of protection–a 65% reduction in risk of Type 2 diabetes–and because loss-of-function mutations are usually harmful, not helpful. The study suggests that it might be possible to develop a drug to mimic the action of these loss-of-function mutations. Such a drug would be a blockbuster.
Gina Kolata at The New York Times took this opportunity to launch a kind of genetic killing spree. "Rare Mutation Kills Off Gene Responsible for Diabetes," reads the headline. She probably didn't write that headline, but she did write this: "The mutation destroys a gene used by pancreas cells where insulin is made." The mutation destroys a gene? No
I ran the headline by Dr. David Nathan, director of the diabetes center at Massachusetts General Hospital. "Oh, that's wrong," he said. The gene is "down-regulated," he said, not killed off or destroyed.
Further, Kolata refers repeatedly to the "ZnT8 gene," but ZnT8 is not a gene–it's a kind of protein called a zinc transporter. The gene that codes for this protein is called SLC30A8.
Certain mutations in SLC30A8 lead to damaged ZnT8 proteins, which in turn reduce the risk of Type 2 diabetes. The mutations don't kill or destroy the gene. They occur in the gene, and that damages the protein.
Kolata made this sound much more complicated than it is. And she might have shown SLC30A8 a little respect by, you know, mentioning it by name. The name of the gene she's fussing over doesn't appear in the story.
-Paul Raeburn
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