Monogenic Diabetes (Neonatal Diabetes Mellitus & MODY)
The most common forms of diabetes, type 1 and type 2, are polygenic, meaning they are related to a change, or defect, in multiple genes. Environmental factors, such as obesity in the case of type 2 diabetes, also play a part in the development of polygenic forms of diabetes. Polygenic forms of diabetes often run in families. Doctors diagnose polygenic forms of diabetes by testing blood glucose, also known as blood sugar, in individuals with risk factors or symptoms of diabetes.
Genes provide the instructions for making proteins within the cell. If a gene has a change or 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. People typically have two copies of most genes, with one gene inherited from each parent.
What are monogenic forms of diabetes?
Some rare forms of diabetes result from mutations or changes in a single gene and are called monogenic. In the United States, monogenic forms of diabetes account for about 1 to 4 percent of all cases of diabetes.1,2,3,4 In most cases of monogenic diabetes, the gene mutation is inherited from one or both parents. Sometimes the gene mutation develops spontaneously, meaning that the mutation is not carried by either of the parents. Most mutations that cause monogenic diabetes reduce the body’s ability to produce insulin, a protein produced in the pancreas that helps the body use glucose for energy.
Neonatal diabetes mellitus (NDM) and maturity-onset diabetes of the you Continue reading