Physical Wellness

Gene Responsible For Onset Of Diabetes Mellitus Discovered; Hope For New Treatment

By Sara Gale | Update Date: May 21, 2016 06:00 AM EDT

Researchers have discovered the gene responsible for causing diabetes mellitus in humans with the help of mice models. The gene responsible for defects in secretion of insulin in patients with diabetes mellitus and Down syndrome were spotted, reports a study published in journal PLOS Genetics.

Researchers from Flinders University in South Australia in association with many other researchers from United Kingdom, United States and Sweden studied around 5000 possible gene candidates to find the RCAN1 gene responsible for causing insulin defects in diabetes mellitus and Down syndrome patients.

According to Flinders University cell physiologist Professor Damien Keating, cross-referencing the genes from Drown syndrome patients was helpful in narrowing down to one particular gene candidate from the whole lot. He also noted that since Down syndrome patients had an extra copy of chromosome 21 they were prone to various health issues including diabetes, reported ABC News.

For the purpose of the study, investigators analyzed four mouse models affected by the disorder in which two models had high blood sugar while the two others had no high blood sugar issues. The researchers cross-referenced the resultant 38 genes obtained with that of the genes overexpressed in case of diabetes mellitus.

"The comparison identified a single gene, RCAN1, which, when we overexpress it in mice, causes them to have abnormal mitochondria in their beta cells, produce less cellular energy and secrete less insulin in the presence of high glucose," Professor Keating said, according to Medical News.

The researchers are hopeful that discovery of RCAN1 would be of great help in developing treatment plan that target RCAN1 gene. He also noted that they have now reached the stage of testing series of drugs that target RCAN1 to find out whether or not the drugs help in improving insulin secretion in diabetes patients.

"Given that we've identified this gene as important for reducing insulin secretion in type 2 diabetes, we are now at a stage where we have a series of drugs that target RCAN1 and we are now going to test to find whether these drugs can improve insulation secretion in type 2 diabetes," Prof Keating said. "We don't understand what changes in our pancreas or in our insulin secreting beta cells to cause that transition from just being insulin resistant and having metabolic syndrome to transitioning to full-blown type 2 diabetes."

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