Key gene linked to diabetes, Down syndrome identified

Researchers have identified a gene that can cause defects in insulin secretion in people with Type-2 diabetes as well as in those with Down syndrome.

Type-2 diabetes (T2D) is a complex metabolic disease associated with obesity and insulin resistance due to pancreatic beta-cell dysfunction. 

Many individuals with Down syndrome experience lower insulin secretion, mitochondrial dysfunction and increased oxidative stress in the insulin-producing beta cells of the pancreas. 

These same conditions also appear in people with Type 2 diabetes. 

In expreiments with mice, the researchers found that the overexpression of the gene RCAN1 can cause these problems common in both the disorders.

The findings, detailed in the journal PlOS Genetics, suggest that this gene may be playing a lead role in development of Type-2 diabetes in the general population.

For the study, the team led by Damien Keating, professor at Flinders University in Australia, used four mouse models, two with high blood sugar and two without to identify genes duplicated in Down syndrome that contributed to problems with insulin secretion.

They narrowed down the list by comparing it to genes overexpressed in beta cells from humans with Type-2 diabetes.