Monogenic Diabetes Facts

  • Monogenic diabetes results from a change – or a mutation – in a single gene that controls the body’s ability to make insulin.

It is a newly understood form of diabetes that has been misdiagnosed as type 1 or type 2 because most doctors aren’t aware of it.

  • Between 250,000 and 500,000 Americans have a form of monogenic diabetes and don’t know it.

  • Up to 95 % of people with monogenic diabetes are misdiagnosed

As type 1 or type 2 because neither they nor their physicians know about the possibility of a different diagnosis and treatment.

  • There are more than 20 genes associated with monogenic diabetes.

  • It is not an autoimmune disease like type 1 diabetes.

People with type 1 do not produce insulin because their bodies destroy the  insulin-producing cells. Most with monogenic diabetes are negative when tested for autoimmune antibodies, which is routinely done when the person is first diagnosed with diabetes.

  • It is not like type 2 diabetes

where the body doesn’t produce enough insulin for various reasons.

  • Most with monogenic diabetes have healthy insulin-producing cells

but a key channel won’t open and close because of the genetic mutation.  Scientists discovered that an oral medication (a sulfonylurea), fixes the channel allowing the body to make and secrete insulin on its own.  Imagine a gate that is stuck in one position. When fixed, it is able to open and close  normally.

  • The many forms of monogenic diabetes can present at differing ages. They are grouped based on the age of the person when they were first diagnosed, regardless of current age.
  1. “Neonatal diabetes” affects children diagnosed typically at 6 months or younger and is almost always due to a form of monogenic diabetes.
  2. “MODY” – maturity onset diabetes of the young – affects children with diabetes at a very early age into early adulthood.
  • Causes of monogenic diabetes

Scientists do not yet fully understand why genetic mutations occur. They do know that some are inherited and passed down from parents to their children. Other mutations happen spontaneously at conception.  These are called  “de novo” mutations.

  • Genetic testing is the only way to get an accurate diagnosis.

Because monogenic diabetes is a genetic condition, the only accurate way to diagnose it is through genetic testing. Performed by a number of academic and commercial organizations throughout the world, the patient’s DNA is analyzed through either a blood or saliva sample.

  • A national Monogenic Diabetes Registry was created in ­­­2007 at the University of Chicago.

There are currently ­­­­­over 1000 families registered and more than 350 of these  have been found to have a form of monogenic diabetes.

  • “Lilly’s Law” was established in 2009.

It requires Illinois physicians to register all children with diabetes onset before 12 months of age with the state Department of Public Health. It is a pilot  program to advance understanding of the genetic causes of diabetes.

  • Certain types of neonatal diabetes also cause a variety of developmental and cognitive challenges.

When switched from insulin shots to sulfonylurea drugs, many experience  dramatic improvements, such as walking and talking for the first time, and an increase in IQ and motor skills. This is another area that scientists are  working to better understand.

  • Two studies conducted by researchers at the University of Chicago prove the cost-effectiveness of genetic testing for monogenic diabetes. See Scientific References, Diabetes Care, 2011 and 2014

  • Hundreds, if not thousands, of children and adults have been able to switch their treatment from insulin to oral medication.

These individuals take the pills daily and will do so for the rest of their lives. Like everyone, they must maintain a healthy diet and lifestyle, but no longer need to count carbohydrates as they did before. They also don’t need to constantly test  their blood sugars, as most are very stable and normal. They also are no longer at  risk of the frightening complications that come with insulin and uncontrolled blood sugars.

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