ABCC8

Mutations of the ABCC8 (ATP-binding cassette, sub-family C, member 8) gene can result in diabetes. The ABCC8 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 ABCC8 mutations may respond to sulfonylurea therapy.

Presentation:

ABCC8 diabetes is typically diagnosed before 6 months of age and is often misdiagnosed as Type 1 diabetes mellitus. Rarely it is results in diabetes that manifests first in adolescence or early adulthood. Early diagnosis and treatment with sulfonylurea therapy are very important. The diabetes may be permanent or in some cases the high blood sugars will return to the normal 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

Treatment:

Many patients with ABCC8 mutations can be successfully treated for years with sulfonylurea medications. Diagnosing somebody with a ABCC8 mutations can usually allow a change in treatment with patients changing from insulin therapy to tablets (sulfonylurea medications). 

Inheritance:

Finding an ABCC8 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 an ABCC8 mutation or suspect yourself or a family member of having an ABCC8 mutation then please contact us to learn more about our studies.