Researchers at the Joslin Diabetes Center have linked another gene to a rare form of diabetes, a finding that could prove beneficial to those with the more common type 2 diabetes.
In a study published this week in Proceedings of the National Academy of Sciences Early Edition, a team led by Alessandro Doria, M.D., Ph.D. and Rohit N. Kulkarni, M.D., Ph.D., reported that a gene known as BLK is linked to maturity-onset diabetes of the young (MODY), a rare form of diabetes that often strikes before age 25. While types 1 and 2 diabetes are caused by multiple gene variants inherited from both parents, MODY is caused by an autosomal dominant mutation, meaning a person needs to only get the variant from one parent to inherit the disease. While rare, MODY is simpler to diagnose and treat than the other forms of diabetes.
“We have discovered a new function for this gene,” said Doria, Director of the Genetics Core at Joslin Diabetes Center as well as an Associate Professor of Medicine at Harvard Medical School. “We now know it plays a role in increasing insulin production in response to glucose.”
The finding could help in the discovery of new drugs to treat type 2 diabetes, which affects about 24 million Americans and is characterized by high blood-glucose levels that result from the body's inability to increase insulin production in response to increased demands.
“We now have to see how we can take advantage of this discovery,” Doria said. “By studying a rare disorder, we have found something new about insulin secretion that may help us understand more common forms of diabetes.”
Only about two to three percent of those with diabetes have the MODY form. So far, mutations in eight genes have been discovered to cause MODY, but these account for only about 85 percent of the cases of the rare form of the disease. The cause of the remaining 15 percent has been unknown.