Overview
- Researchers linked recessive TMEM167A variants to diabetes diagnosed before six months in six children who also had neurological issues such as epilepsy and microcephaly.
- Stem-cell-derived pancreatic beta cells edited with CRISPR showed that TMEM167A disruption blocks insulin secretion and triggers stress pathways leading to cell death.
- The findings indicate TMEM167A is critical for beta cells and neurons, with limited impact observed in other cell types in laboratory studies.
- The international collaboration, led by the University of Exeter Medical School with Université Libre de Bruxelles, reports the results in the Journal of Clinical Investigation.
- The work provides a validated disease model that could guide future therapeutic testing, though mutation-specific treatments are not yet available.