Researchers explained that mutations in this gene can disrupt the ‘beta’ cells in the pancreas, which are responsible for producing insulin, ultimately leading to their destruction. Miriam Knop, a diabetes specialist at the Free University of Brussels, stated, ‘The ability to produce from stem cells has enabled us to study the dysfunction in ‘beta’ cells in patients with rare types of diabetes, as well as other types.’
The researchers studied the genes of six children born with small heads, five of whom also suffered from epilepsy. This rare group of conditions is known as ‘MIDS’, with only 11 cases recorded so far. The new study showed that the same applies to the ‘TMEM 167A’ gene, which represents the third genetic cause of MIDS syndrome.
Researchers noted that the ‘TMEM 167A’ gene is active in both the pancreas and the brain in humans and mice, which may explain why these two organs are affected in children with the syndrome. To understand the gene’s mechanism, scientists replaced it with the mutated version from a MIDS patient and then encouraged these cells to develop into ‘beta’ cells.
Elisa De Franco, a molecular geneticist at the University of Exeter, confirmed that ‘the discovery provides a unique way to identify the fundamental genes in insulin production and secretion.’ She added, ‘The genetic analysis of the six affected children highlighted the vital role of the ‘TMEM 167A’ gene in insulin secretion, explaining the cause of the condition.’
