Neonatal Diabetes and Maturity Onset Diabetes of the Young
There are two types of monogenic diabetes: neonatal and Maturity Onset Diabetes of the Young (MODY). Dr. Naylor explained:
“In neonates monogenic diabetes is caused by a chromosomal abnormality, usually by one of three genes; KCNJ11, ABCC8 or INS. Monogenic diabetes occurs in 1/100,000 to 1/300,000 babies. Babies can present from a few days to 6 months of life. They are sick, and it can present like an illness until you know what is going on. They require insulin treatment because they tend to have high blood sugar once they are diagnosed.
Maturity Onset Diabetes of the Young (MODY) tends to come on in people who are less than 25 and may appear to have type 2 diabetes. They typically don’t make ketones, don’t need insulin, and have a strong family history. They just need one copy of the gene to carry the mutation, so each child has a 50 percent chance of having MODY.”
Diabetes Registry for Genetic Predisposition
One of the best ways to study diseases is to have a large group of people that can be used to gain a better understanding of the disease. If you are interested in being part of the Monogenic Diabetes Registry, Dr. Naylor outlined some of the criteria:
- Neonatal: You or your child must have been diagnosed before one year of age, especially before six months.
- MODY: You must present with atypical type 1 diabetes or potentially antibody negative, make your own insulin (higher c-peptide), have been diagnosed with type 2 and have no signs of insulin resistance. You should have mildly elevated fasting blood sugars, strong family history with three generations of diabetic diagnosis, and family history or diagnosis of kidney disease/renal cysts (potentially MODY 5).
- You should be a diabetic who does not fit into traditional definitions of diabetes.
Dr. Naylor left us with this final comment, “Monogenic diabetes is likely around 2% of all diabetes cases, 250,000 people. They have 1000 people in the registry. The genetic implications are huge – it’s good to know when a gene like this is in your family.”
Monogenic diabetes is different than type 1 or type 2 diabetes, but researchers are gaining a better understanding about this disease. By getting the information out to the public, and enrolling patients in the registry, scientists and doctors will be able to understand more about the genetic causes and, potentially, find a cure.
Centers for Disease Control and Prevention. National Diabetes Fact Sheet: National estimates and general information on diabetes and prediabetes in the United States, 2011. (2011). Accessed January 8, 2013.
The University of Chicago Medicine Kovler Diabetes Center. The Roots of Monogenic Diabetes. (2013). Accessed January 8, 2013.
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