"It's a single-nucleotide polymorphism (SNP, pronounced 'snip'), a single letter change in your DNA," said Sladek. "What's interesting about this particular SNP is that it's not linked genetically to the IRS1 gene in any way; it's about half-a-million base-pairs away, in the middle of a genetic desert with no known genes nearby. In genetic terms, it's halfway from Montreal to Halifax. And yet we can see that it causes a 40-per-cent reduction in the IRS1 gene, and even more important, a 40-per-cent reduction in its activity. Which means that even if insulin is present, it won't work."

"We would like to congratulate Rob Sladek and his group for this breakthrough discovery. His work on the genetic basis of type 2 diabetes will certainly have an impact in the way clinicians diagnose and treat diabetes patients and is paving the way for translational research and personalized medicine," said Catalina Lopez-Correa, Vice-president of Scientific Affairs at G-nome Qu-bec. She added, "This discovery once again confirms the scientific excellence and talent of Qu-bec's scientists and the key role that genomics is playing in the study and treatment of complex diseases."

Sladek hopes this discovery may lead to new therapeutic lines of attack in the future.

"It's possible that in diabetic patients, the signal to turn this gene on and off might be impaired. But we might be able to use one of the other pathways to turn it on," he said.

Source: McGill University