Enamel, the hardest and most mineral-rich substance in the human body, covers and protects our teeth. But in one of every 10 people this layer appears defective, failing to protect the teeth properly. As a result, teeth become more sensitive to heat, cold and sour food, and they may decay faster. In most cases, the cause of the faulty enamel production is unknown.

Now, a study by Prof. Jakub Abramson and his team at the Weizmann Institute of Science, published recently in Nature, may shed light on this problem by revealing a new children’s autoimmune disorder that hinders proper tooth enamel development. The disorder is common in people with a rare genetic syndrome and in children with celiac disease. These findings could help develop strategies for early detection and prevention of the disorder.

A strange phenomenon was identified in people with a rare genetic disorder known as APS-1. Although the enamel layer of their milk teeth forms normally, something causes its faulty development in their permanent teeth. Since people with APS-1 suffer from a variety of autoimmune diseases, Abramson and his team hypothesised that the observed enamel defects may also be of an autoimmune nature – in other words, that their immune system could be attacking their own proteins or cells that are necessary for enamel formation.

In their new study, scientists from Abramson’s lab in Weizmann’s Immunology and Regenerative Biology Department, led by research student Yael Gruper, sought to work out how mutations in the Aire gene lead to deficient tooth enamel production.

Online: https://www.sciencedaily.com/releases/2023/12/231213112542.htm