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Gene Mutation Linked to Newborn Diabetes
16 Jan
Summary
- A genetic disorder disrupts insulin-producing cells in newborns.
- Mutations in the TMEM167A gene cause this rare form of diabetes.
- The gene is crucial for insulin production and also affects neurons.
Scientists have identified a new genetic disorder causing diabetes in newborns. This condition, diagnosed in infants under six months, is caused by specific gene mutations affecting insulin production. Researchers from the University of Exeter Medical School and Université Libre de Bruxelles led the study, utilizing advanced DNA sequencing and stem cell models.
The research pinpointed mutations in the TMEM167A gene as the cause for this rare neonatal diabetes. This gene is vital for the proper functioning of insulin-producing beta cells and also plays a role in neurological development, explaining concurrent conditions like epilepsy and microcephaly observed in affected infants.
By transforming stem cells into insulin-producing cells, scientists demonstrated how damaged TMEM167A impairs cell function and survival under stress. This discovery provides a crucial understanding of insulin secretion and cell resilience, opening avenues for further research into diabetes and neurological disorders.
