“Breakthrough in fight against diabetes
A gene that controls the way the body responds to the hormone insulin has been identified, marking a breakthrough in the fight against diabetes.

Published: 7:00AM BST 07 Sep 2009

Scientists believe a variation in the gene’s DNA promotes insulin resistance, the primary cause of type 2 diabetes. The disease is the most common form of diabetes, affecting around two million people in the UK.

The discovery could lead to new drug treatments that target the genetic fault and prevent the body failing to respond to insulin.

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In type 2 diabetes, insulin often continues to be produced by the pancreas but it cannot be used properly.

The new genetic link, the first known to involve insulin resistance, was found after scientists screened the DNA of more than 14,000 people.

They identified thousands of single-letter variations in the genetic code that were associated with the disease, finally whittling them down to one with the greatest effect. This appeared to influence a gene called insulin receptor substrate 1, or IRS1.

Tests on the skeletal muscle of a pair of Danish twins confirmed the connection. One of the twins had diabetes, suffered from insulin resistance, and also had the IRS1 genetic variation.

The mutation affected the amount of protein produced by the IRS1 gene, suggesting a direct link.

Professor Philippe Froguel, one of the researchers from Imperial College London, said: ”We are very excited about these results – this is the first genetic evidence that a defect in the way insulin works in muscles can contribute to diabetes.

“Muscle tissue needs to make more energy using glucose than other tissues. We think developing a treatment for diabetes that improves the way insulin works in the muscle could really help people with type 2 diabetes.

”It is now clear that several drugs should be used together to control this disease. Our new study provides scientists developing treatments with a straightforward target for a new drug to treat type 2 diabetes.”

The research is published today in the journal Nature Genetics.”