Genetics and Health

ENPP1 Gene and Risk of Diabetes and Obesity

by Hsien Hsien Lei, PhD on July 18th, 2005

When I was still working full-time in genetics research, one of my main goals was to identify candidate genes involved in type 2 diabetes and obesity. The two genes I examined in my doctoral dissertation, IRS-1 and FABP2, weren’t associated with diabetes, obesity, or hyperinsulinemia. Researchers from Imperial College London and the Institut Pasteur in Lille were luckier and found a more likely culprit in the ENPP1 gene. (BBC News, July 17, 2005)

In French families with clusters of family members affected by diabetes and obesity, the ENPP1 gene was associated with obesity, diabetes, and other metabolic problems. It’s believed that mutations in the gene block the action of insulin thus altering sugar metabolism and energy storage. The most alarming observation was in the children of these families in whom ENPP1 was associated with obesity as young as five years old.

Diabetes and obesity are considered to be multifactorial diseases to which a slate of genes and lifestyle factors contribute. Although it’s not clear whether these affected families also tended to have less healthy lifestyles, researchers believe that a version of the ENPP1 gene does appear to convey higher risk. It remains to be seen if the particular gene variant detected in the French families will be prevalent in the general population and if the same associations will be found. The exact biological mechanism of the gene will also need to be elucidated before we can develop any appropriate treatments.

Dr Philippe Froguel said,

If we can identify those at risk at an earlier age, it may be possible to take preventative measures earlier on, and reduce the burden of ill health caused by obesity in later life.

This is a noble idea, but I wonder about its practicality. Lifestyle habits are incredibly difficult to change. Testing for genes like ENPP1 would be helpful if a suitable pharmaceutical intervention can be developed that aids our metabolism or blocks/corrects the action of defective genes. Meanwhile, I would encourage everyone to exercise regularly and eat healthily regardless of your genetic make-up.

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POSTED IN: Genetics of Disease