KCNJ11

Mutations of the KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11) can result in diabetes. The KCNJ11 gene contains a blueprint for an important protein involved in a potassium channel. Disruption of this protein affects the normal function of the channel. This can result in a failure of insulin release from beta cells. Diabetes results from failure of the channel to close appropriately in response to rising glucose. Sulfonylurea therapy permits insulin secretion through closure of the channel. Thus, patients with diabetes due to KCNJ11 mutations may respond to sulfonylurea therapy.

Presentation:

KCNJ11 diabetes is typically diagnosed before 6 months of age and is often misdiagnosed as Type 1 diabetes mellitus. Other features associated with KCNJ11 mutations include very mild to severe neurodevelopmental delay. Early diagnosis and treatment with sulfonylurea therapy are very important. Usually the diabetes is permanent but in some cases the high blood sugars will return to the normal range for many years.

The exact mutation within the gene can often give us a guide as to whether the diabetes will be

  • Permanent
  • Treatable with oral medications
  • Associated with neurodevelopmental problems

Treatment:

Many patients with KCNJ11 mutations can be successfully treated for years with sulfonylurea medications. Diagnosing somebody with a KCNJ11 mutation can usually allow a change in treatment with patients changing from insulin therapy to tablets (sulfonylurea medications). 

Inheritance:

Finding a KNCJ11 mutation in a patient’s family may have implications for other family members. An affected person’s child will each be at a 50% risk of inheriting the mutation and developing diabetes.

Research:

If you or a family member have a KCNJ11 mutation or suspect yourself or a family member of having a KCNJ11 mutation then please contact us to learn more about our studies.