Single Gene Mutation Linked with Type 1 Diabetes.

A single gene called SIRT1 is involved in the development of type 1 diabetes, making it the first monogenetic defect leading to the disease's onset. Research in Cell Metabolism revealed that a mutation in the SIRT1 gene was present in four family members with type 1 diabetes and one with ulcerative colitis. Knocking out the normal SIRT1 gene in mice caused them to become susceptible to diabetes with increased islet destruction. Beta cell impairment and death due to the SIRT1 mutation may activate the immune system toward diabetes. The SIRT1 gene helps regulate metabolism and protect against age-related disease.