Scientists are Getting Closer to the Genetic “Smoking Gun” of Type 2 Diabetes

Researchers are coming closer and closer to figuring out the exact science of diabetes in the human genome.  Up until the middle of 2010, scientists found that there were approximately 38 genetic regions associated with type 2 diabetes.  On March 1st, the Journal of the American Medical Association published a study indicating that scientists have found one more mutation that can be a culprit of diabetes.

According to background information within the article, there is quite a bit of evidence that heredity is a major contributor in insulin resistance, and therefore to type 2 diabetes.  The authors noted, though, that even though there have been extensive investigations, including recent genome-wide candidate gene studies, the exact genetic causes of insulin resistance remain stubbornly elusive.

People who develop type 2 diabetes, no matter their age, are more likely to have multiple genetic variations especially in consideration of a key protein which regulates the cells’ insulin receptors.  The study authors noted that the addition of a mutation in the HMGA1 protein, even though it hasn’t been found as the “smoking gun,” could serve as an early predictive marker of diabetes, particularly in people with a family history of the disease.

Various individuals from the Università di Catanzaro “Magna Græcia” in Italy, including Eusebio Chiefari, MD, investigated the pervasiveness of rare functional HMGA1 gene variants in type 2 diabetes patients.  These scientists examined the DNA of 4,602 diabetes patients and 4,336 people without diabetes, as the control, throughout France, the US and Italy.  The variant, or mutation, of the HMGA1 gene was found in a little over 7% of those studied with type 2 diabetes.

Breaking down the study, this HMGA1 variant was found in 7.23% of the Italian population with diabetes vs. 0.43% of Italians who didn’t have the disease.  Within the US population, the variant was found in 7.7% of the diabetes patients vs. 4.7% of the control group.  And among the French population tested, 7.6% of diabetes patients had this variant vs. 0% within the control group.

The study authors indicated that even though finding the link between HMGA1 variations and diabetes is a step in the right direction, further studies will be needed to completely understand the role of HMGA1 in insulin resistance of those with type 2 diabetes.  In fact, one of the clinical directors of the Medical Center at the University of Rochester, Dr. Steven D. Wittlin – who didn’t participate in the study – indicated that researchers need to figure out how this gene is associated with diabetes from a pathophysiological point of view before they can figure out how to use this information to help diabetes patients.

Dr. Wittlin further reported that a major problem with the study was that it was conducted only within the white population of European descent, therefore there is no proof that this variant link to type 2 diabetes will be found in any other ethnicities.

Since diabetes is becoming more and more prevalent within people, it is imperative that these studies continue and hopefully one day pin down the culprit of this pervasive illness.


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