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Genetic Mutation Kills Off Type 2 Diabetes

    March 7, 2014
    Kathy Karadza
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U.S. researchers earlier this week released the results of a study based on the genetic testing of 150,000 people that found a rare mutation that protects individuals from Type 2 diabetes, even the obese or elderly.

David Altshuler, co-senior author, deputy director and chief academic officer at the Broad Institute and a Harvard Medical School professor at Massachusetts General Hospital said the findings focus on the search to develop new treatment therapies for people with Type 2 diabetes.

The genetic mutation reduces risk significantly, by two-thirds, and proves promising in the development of a new drug that act like the mutations.

The mutation is effective in that it destroys a gene used by pancreas cells, where insulin is made. Individuals carrying the mutation seem to produce slightly more insulin and have slightly lower blood glucose levels throughout their lifespan.

The study, published in Nature Genetics Sunday, notes that the mutation is extremely rare and that finding it was only recently possible, through the testing of a large group of people and vast amounts of data.

Pfizer helped finance the study, and Amgen owns a company that played a large role in conducting the research. Both companies said they are establishing programs to develop drugs that mimic the mutations.

ltshuler and colleagues studied the genome of aging, overweight people who had normal blood sugar levels.

The initial analysis revealed a mutation in the gene SLC30A8 that stopped it from functioning — a discovery the research team found surprising. Previous studies in mice showed mutations in this gene increased the risk of type 2 diabetes.

Scientists studied the genome of overweight and aging people who had normal blood sugar levels.

The initial findings revealed a mutation in the gene SLC30A8 that stopped it from functioning.  Researchers found the results surprising because previous studies in mice showed mutations in this gene increased the risk of type 2 diabetes.

This is the first time in diabetes research that a mutation that destroys a gene has proved beneficial, noted Louis Philipson, director of the Kovler Diabetes Center at the University of Chicago.

Altshuler and his colleagues said the further genetic analysis of 150,000 patients exhibited that rare mutations in the gene SLC30A8 reduced the risk of type 2 diabetes by 65 percent. The results were seen in patients from various ethnic groups. The research team is hopeful the findings will prove useful in developing a broad range drug to fight Type 2 diabetes.

Image via Wikimedia Commons


  • james

    There is a tremendous amount of money in not curing type 2 diabetes. I wonder how this might play out. Mmm, your thoughts?

  • Shirley

    I read a number of years ago that a certain gene, triggered by poor diet and exercise, causes type II diabetes. My older sister and younger brother have it, but mom lived to 95 on white bread, fried food, boiled vegetables without developing diabetes. I each much better and don’t have diabetes–not even close.

  • kscatlady

    Thin people can get type 2 diabetes, but you would never know from this video. Maybe whoever shot that vid has diagnosed all those “headless fatties.” Shame on you for turning a serious piece of news into another example of internet bullying.

    • jack

      quit whining.

  • Petes

    Coca Cola for everyone!