Down syndrome points to key gene responsible for type 2 diabetes

One of the key genes responsible for the onset of type 2 diabetes has been identified, opening up possibilities to develop a drug to combat the condition.

Key points

• Onset of type 2 diabetes caused by failure of beta cells in the pancreas
• Failure of beta cells also often seen in people with Down syndrome, who have an extra copy of chromosome 21
• Comparison of beta cell genes on chromosome 21 and in people with type 2 diabetes narrows down one common gene called RCAN1

The discovery, published today in PLOS Genetics, was made by comparing genes involved with defects in insulin secretion of people with type 2 diabetes and those with Down syndrome.

Diabetes is the fastest-growing chronic condition in Australia with the preventable type 2 form accounting for 85 per cent of all cases.

Read more: Down syndrome points to key gene responsible for type 2 diabetes

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Novel Use of Insulin-Producing Beta Cells

While not having love handles in the first place would probably be an ideal situation, scientists at the Swiss Federal Institute of Technology (ETH) in Zurich have found an exciting new use for the cells that reside in the undesirable flabby tissue—creating pancreatic beta cells. The ETH researchers extracted stem cells from a 50-year-old test subject's fatty tissue and reprogrammed them into mature, insulin-producing beta cells.

The findings from this study were published recently in Nature Communications in an article entitled “A Programmable Synthetic Lineage-Control Network That Differentiates Human IPSCs into Glucose-Sensitive Insulin-Secreting Beta-Like Cells.”

The investigators added a highly complex synthetic network of genes to the stem cells to recreate precisely the key growth factors involved in this maturation process. Central to the process were the growth factors Ngn3, Pdx1, and MafA; the researchers found that concentrations of these factors change during the differentiation process.

Read more: Novel Use of Insulin-Producing Beta Cells

The diagram shows the dynamics of the most important growth factors during differentiation of
human induced pluripotent stem cells to beta-like cells.

Source: ETH Zurich