Rare genetic form of diabetes detected in newborn babies for first time
Rare form of diabetes discovered by scientists in the UK
- Scientists from the University of Exeter and Belgium's Université Libre de Bruxelles have found that a newly identified genetic disorder is causing diabetes in newborn babies.
- The research discovered that mutations in the TMEM167A gene lead to the failure of insulin-producing cells early in life, through DNA sequencing and stem cell studies.
- The team found that these TMEM167A mutations were responsible for neonatal diabetes in six children who also presented with neurological conditions like epilepsy or microcephaly.
- Further investigation using stem cells showed that damage to TMEM167A prevents insulin-producing cells from functioning normally, leading to cell stress and death.
- The findings, published in The Journal of Clinical Investigation, highlight the critical role of the TMEM167A gene in both insulin production and neuron function.