Breakthrough study reveals link between autoimmune disorders and tooth enamel defects

7. 12. 2023 Press Releases

An international research team, which included scientists from the Czech Centre for Phenogenomics and the Laboratory of Transgenic Models of Diseases at the Institute of Molecular Genetics of the Czech Academy of Sciences, at the BIOCEV Centre, has uncovered new knowledge about a dental development disorder (amelogenesis imperfecta) that affects the dental health of patients with autoimmune diseases. The study, published in Nature, sheds light on the little-known condition amelogenesis imperfecta in patients with autoimmune polyglandular syndrome type 1 (APS-1) and celiac disease.

Ameloblasts, the cells responsible for the formation of tooth enamel, depend on several proteins to form the durable outer layer of our teeth. When these proteins are attacked by the body’s immune system, tooth development is impaired, leading to amelogenesis imperfecta, a condition characterised by weakened, discoloured and easily damaged teeth. This fact has long been a mystery to the medical community, but a new study led by Jacob Abramson of the Weizmann Institute in Israel offers unprecedented insights.

The research team, to which Jan Procházka from the Czech Centre for Phenogenomics also made a significant contribution, used advanced technology to analyse tooth phenotypes and elucidate the processes that disrupt enamel mineralisation in autoimmune diseases.

The study revealed that most patients with APS-1 and celiac disease develop autoantibodies, especially of the IgA isotype, against proteins specific to ameloblasts. As a consequence, the body’s tolerance to these proteins is disturbed, leading to impaired enamel formation. In celiac disease, this phenomenon appears to be related to a loss of tolerance to intestinal antigens that are also present in the enamel tissue. These findings suggest a new type of IgA-dependent autoimmune disorder, which researchers have collectively termed “autoimmune amelogenesis imperfecta”.


Gruper Y, Wolff ASB, Glanz L, Spoutil F, Marthinussen MC, Osickova A, Herzig Y, Goldfarb Y, Aranaz-Novaliches G, Dobeš J, Kadouri N, Ben-Nun O, Binyamin A, Lavi B, Givony T, Khalaila R, Gome T, Wald T, Mrazkova B, Sochen C, Besnard M, Ben-Dor S, Feldmesser E, Orlova EM, Hegedűs C, Lampé I, Papp T, Felszeghy S, Sedlacek R, Davidovich E, Tal N, Shouval DS, Shamir R, Guillonneau C, Szondy Z, Lundin KEA, Osicka R, Prochazka J, Husebye ES, Abramson J: Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease. Nature 2023. [pubmed] [doi]

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Jan Procházka, Ph.D.

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Petr Solil, M.Sc.