Rare Mutation Destroys Gene Associated With Type 2

| Mar 9, 2014

A recent New York Times article reports that researchers have found a rare mutation that reduces the risk of developing type 2 diabetes by two thirds, even in obese people.

The mutation destroys a gene called ZnT8, which is found in insulin-producing pancreatic cells. People who have the mutation were found over a lifetime to produce slightly more insulin and have slightly lower blood glucose levels compared to people who lack the mutation.

Ironically, scientists found that the effect of the mutation in laboratory mice sometimes had an opposite effect: Destruction of ZnT8 led to diabetes in certain strains of mice.

Researchers cited in the article said that they originally had set out to map genetic mutations that increase the risk of diabetes. But as they ran into data involving the destruction of ZnT8, they saw that here was a mutation that actually decreased the risk of developing type 2.

The article notes that observers say a drug that could control type 2 by mimicking the mutation's effects is at least 10 years away, but that its discovery has opened a whole new research path.

The article is available at: http://www.nytimes.com/2014/03/03/health/rare-gene-protects-against-type-2-diabetes-even-in-obese-people.html?_r=0

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Categories: Mutation, Type 2, ZnT8

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