Gene discovery offers new diabetes drug target hope

pharmafile | January 16, 2006 | News story | Research and Development  

A gene thought to be present in around 20% of type II diabetes patients has been identified, opening up the possibility of earlier diagnosis and new, targeted treatment for patients.

Icelandic gene research company deCODE said the discovery of a variant in a gene on chromosome 10 represented the most significant genetic risk factor for the condition found to date.

More than a third of individuals studied carried one copy of the gene, and are at an approximately 45% increased risk of developing type II diabetes. Just 7% carried two of the variant genes but are at a 141% increased risk.

Kari Stefansson, chief executive of deCODE and senior author on the study said: "This is a milestone in human genetics. A common gene variant conferring elevated risk of type II diabetes has been earnestly sought by the genetics community for many years."

Stefansson confirmed the research suggested the gene was responsible for around 20% of all cases, shedding new light on the biological causes of the disease.

"Importantly, virtually all of this risk can be captured by looking at a single-letter change in DNA – ideal for the development of a genetic test for assessing individual risk and developing more personalised and effective prevention strategies," he said.

"This is also an exciting starting point for the discovery of new drugs, and we are actively pursuing the development of both diagnostic and therapeutic products to better prevent and treat type II diabetes."

The variant is located in a gene encoding a protein called transcription factor 7-like 2 (TCF7L2). The company isolated the gene by following up on the results of a population-based, genome-wide linkage scan in Iceland that identified a promising region on chromosome 10.

deCODE has built up a unique research base – having access to the genetic and medical data from more than 100,000 volunteers from Iceland, more than 50% of the country's population.

Genealogy and family trees have been of huge importance in Iceland, resulting in genealogical data stretching back from the present day population to over 1,100 years.

deCODE's news comes just days after researchers at Oxford University announced the discovery of another gene associated with the condition.

Studies in mice have found those lacking the Nnt gene had reduced insulin production, the first time the gene has been linked with this function.

Diabetes UK was one of the co-sponsors of the research and director of research Angela Wilson welcomed the news.

"Type II diabetes results from a combination of genetic and lifestyle factors. We know that a healthy diet and regular exercise can help reduce the risk of people developing the condition and is important in its management," she said.  

"A better understanding of the genetics of diabetes will help us to develop new treatments. These, in turn, will hopefully reduce the number of people who go on to develop serious complications, including strokes, heart attacks, blindness and kidney failure."

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