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Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease.
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SYSNO ASEP 0579872 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease. Author(s) Gruper, Y. (IL)
Wolff, A. S. B. (NO)
Glanz, L. (IL)
Špoutil, František (UMG-J)
Marthinussen, M. C. (NO)
Osičková, Adriana (MBU-M) RID, ORCID
Herzig, Y. (IL)
Goldfarb, Y. (IL)
Aranaz-Novaliches, Gorreti (UMG-J)
Dobeš, J. (CZ)
Kadouri, N. (IL)
Ben-Nun, O. (IL)
Binyamin, A. (IL)
Lavi, B. (IL)
Givony, T. (IL)
Khalaila, R. (IL)
Gome, T. (IL)
Wald, Tomáš (MBU-M) RID
Mrázková, Blanka (UMG-J)
Sochen, C. (IL)
Besnard, M. (FR)
Ben-Dor, S. (IL)
Feldmesser, E. (IL)
Orlova, E. M. (RU)
Hegedus, C. (HU)
Lampe, I. (HU)
Papp, T. (HU)
Felszeghy, S. (HU)
Sedláček, Radislav (UMG-J) RID
Davidovich, E. (IL)
Tal, N. (IL)
Shouval, D. S. (IL)
Shamir, R. (IL)
Guillonneau, C. (IL)
Szondy, Z. (IL)
Lundin, K. E. A. (NO)
Osička, Radim (MBU-M) RID, ORCID
Procházka, Jan (UMG-J) ORCID
Husebye, E. S. (NO)
Abramson, J. (IL)Number of authors 40 Source Title Nature. - : Palgrave Macmillan - ISSN 0028-0836
Roč. 624, č. 7992 (2023), s. 653-662Number of pages 39 s. Language eng - English Country GB - United Kingdom Keywords antibody ; enamel ; immune response ; protein ; tolerance ; tooth OECD category Biochemistry and molecular biology R&D Projects LM2023053 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) LM2018126 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) LM2023036 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) EF16_013/0001789 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) EF18_046/0015861 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) GJ19-19025Y GA ČR - Czech Science Foundation (CSF) LM2018129 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) EF18_046/0016045 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) Method of publishing Limited access Institutional support UMG-J - RVO:68378050 ; MBU-M - RVO:61388971 UT WOS 001112504800001 EID SCOPUS 85177589789 DOI 10.1038/s41586-023-06776-0 Annotation Ameloblasts are specialized epithelial cells in the jaw that have an indispensable role in tooth enamel formation-amelogenesis1. Amelogenesis depends on multiple ameloblast-derived proteins that function as a scaffold for hydroxyapatite crystals. The loss of function of ameloblast-derived proteins results in a group of rare congenital disorders called amelogenesis imperfecta2. Defects in enamel formation are also found in patients with autoimmune polyglandular syndrome type-1 (APS-1), caused by AIRE deficiency3,4, and in patients diagnosed with coeliac disease5-7. However, the underlying mechanisms remain unclear. Here we show that the vast majority of patients with APS-1 and coeliac disease develop autoantibodies (mostly of the IgA isotype) against ameloblast-specific proteins, the expression of which is induced by AIRE in the thymus. This in turn results in a breakdown of central tolerance, and subsequent generation of corresponding autoantibodies that interfere with enamel formation. However, in coeliac disease, the generation of such autoantibodies seems to be driven by a breakdown of peripheral tolerance to intestinal antigens that are also expressed in enamel tissue. Both conditions are examples of a previously unidentified type of IgA-dependent autoimmune disorder that we collectively name autoimmune amelogenesis imperfecta. Workplace Institute of Molecular Genetics Contact Nikol Škňouřilová, nikol.sknourilova@img.cas.cz, Tel.: 241 063 217 Year of Publishing 2024 Electronic address https://www.nature.com/articles/s41586-023-06776-0
Number of the records: 1