An international team of researchers have identified a gene that could be responsible for the development of type 2 diabetes.
This gene, known as RCAN1, was reported on by scientists at Flinders University in South Australia, who led this research in collaboration with researchers from the United Kingdom, Sweden and the United States.
In the study, the researchers cross-referenced genes from people with Down syndrome. This was done because patients with Down syndrome are prone to several health disorders, including type 2 diabetes.
They then screened over 5,000 genes in four mouse models of Down syndrome to identify genes duplicated in Down syndrome that contribute to problems with insulin secretion. They found that two mouse models had high blood sugar and two did not.
Professor Damien Keating explained: “Many individuals with Down syndrome experience lower insulin secretio, mitochondrial dysfunction and increased oxidative stress in the insulin-producing beta cells of the pancreas, which are all conditions that also appear in people with type 2 diabetes.”
This discovery led to a shortlist of 38 implicated genes, so the study team narrowed it down further by comparing the genes to those which are overexpressed in insulin-producing beta cells from humans with type 2 diabetes.
“The comparison identified a single gene, RCAN1, which, when we overexpress it in mice, causes them to have abnormal mitochondria in their beta cells, produce less cellular energy and secrete less insulin in the presence of high glucose,” said Keating.
The researchers noted that it is unknown which changes in the pancreas make it transition into type 2 diabetes, but this discovery could target the primary cause of the metabolic condition.
“Given that we’ve identified this gene as important for reducing insulin secretion in type 2 diabetes, we are now at a stage where we have a series of drugs that target RCAN1 and we are now going to test to find whether these drugs can improve insulin secretion in type 2 diabetes,” Keating concluded.
The findings appear in the international journal PLOS Genetics.

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