Research to Identify and Correctly Treat Rare Forms of Diabetes

Research to Identify and Correctly Treat Rare Forms of Diabetes

Dr. Louis PhilipsonThe vast majority of diabetes cases—both type 1 and type 2—are polygenic diseases, meaning that more than one gene contributes to risk of and progression to diabetes. However, some very rare forms of diabetes, distinct from type 1 or type 2 diabetes, are caused by single gene mutations. These forms of diabetes account for an estimated 1-5 percent of all cases of diabetes and are called “monogenic” diabetes.

Beginning in the early 1990s scientists started to identify particular single gene mutations as the causative factor in neonatal diabetes—diabetes that appears in newborns up to about 6-9 months of age. In part because neonatal monogenic diabetes is rare, these individuals are often misdiagnosed as having type 1 diabetes and are treated with insulin. However, because the single gene mutations that cause the disease don’t necessarily result in total insulin deficiencies like type 1 diabetes, oral medications like sulfonylureas can sometimes be used to better manage diabetes in patients with monogenic diabetes. The correct diagnosis of monogenic diabetes is critical to manage these patients appropriately, and can make a significant impact in the lives of the patients who are correctly diagnosed.

http://www.diabetes.org/research-and-practice/we-are-research-leaders/recent-advances/rare-forms-of-diabetes.html

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