What is neonatal diabetes and what causes it?

Neonatal diabetes is diagnosed under six months of age and is typically caused by genetic mutations affecting insulin production, unlike autoimmune type 1 diabetes.

Which gene did the University of Exeter Medical School study identify?

The study led by the University of Exeter identified mutations in the TMEM167A gene as responsible for a rare form of neonatal diabetes.

How does the TMEM167A gene affect babies with diabetes?

Mutations in TMEM167A disrupt the function of insulin-producing cells and are also linked to neurological conditions in infants.

Home / Health / Gene Mutation Linked to Newborn Diabetes

Gene Mutation Linked to Newborn Diabetes

16 Jan

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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.

Gene Mutation Linked to Newborn Diabetes

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.