6q24-related diabetes

6q24 is a term used to describe a region on the 6th chromosome. This region contains two important diabetes genes (PLAGL1/HYMAI). Normally a copy of both genes is passed down from a each parent. The maternally derived copy is “silenced or suppressed” through a process called methylation. Diabetes may result if an individual has two unmethylated (or unsuppressed) copies of the 6q24 region. This may due to two paternal copies of the 6q24 region or a loss of methylation of the maternal 6q24 region.

Presentation:

The pathogenesis of hyperglycemia is uncertain with a variable course of DM in the neonatal period and later life. Diabetes generally presents in first few weeks of life. The diabetes is often described as transient as blood sugars can return to normal within the first year of life. During this period of life, medications can be withdrawn. Some children will experience low blood sugars while off all therapy.

In most cases, treatment for high blood sugars is again needed in later childhood or early adulthood.

Treatment:

In the neonatal period patients have been traditionally treated with insulin therapy. While treatment of 6q24 related diabetes in later life is less certain, insulin therapy often needed. Sulfonylurea therapy has been successfully used for the treatment of a number of patients with 6q24 related diabetes.

Inheritance:

The inheritance pattern is varied and depends on which underlying genetic mechanism caused the 6q24 related diabetes. Most forms of 6q24 related diabetes are not inherited.

Research:

If you or a family member have 6q24 related diabetes or suspect yourself or a family member had diabetes in early life that “went away” then please contact us to learn more about our studies.