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The most common forms of diabetes, Type 1 and Type 2, are polygenic, meaning the risk of developing these forms of diabetes is related to multiple genes. But some rare forms of diabetes result from mutations in a single gene and are called monogenic….
Monogenic forms of diabetes may account for about 2 to 3 percent of all cases of diabetes in young people. In some cases of monogenic diabetes, the gene mutation is inherited meaning there is a family history; but in others, the gene mutation develops spontaneously.
Genes provide the instructions for making proteins within the cell. If a gene has a mutation, the protein may not function properly. Genetic mutations that cause diabetes affect proteins that play a role in the ability of the body to produce insulin or in the ability of insulin to lower blood glucose. As a result, monogenic diabetes can be indistinguishable from Type 1 diabetes.
Some monogenic forms of diabetes can be treated with oral diabetes medications while other forms require insulin injections. A correct diagnosis that allows the proper treatment to be selected should lead to better glucose control and improved health in the long term.
Other articles in Special Edition: Uncommon Diabetes Diagnoses:
What is neonatal diabetes mellitus (NDM)?
What is maturity-onset diabetes of the young (MODY)?
What to know about genetic testing and counseling