Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A90127%2F23%3A00139178" target="_blank" >RIV/00216224:90127/23:00139178 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/61388971:_____/23:00579872 RIV/68378050:_____/23:00579872 RIV/00216208:11310/23:10476998

Výsledek na webu

<a href="https://www.nature.com/articles/s41586-023-06776-0" target="_blank" >https://www.nature.com/articles/s41586-023-06776-0</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/s41586-023-06776-0" target="_blank" >10.1038/s41586-023-06776-0</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30103 - Neurosciences (including psychophysiology)

Projekt

—

Návaznosti

—

Rok uplatnění

2023

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Nature

ISSN

0028-0836

e-ISSN

—

Svazek periodika

624

Číslo periodika v rámci svazku

7992

Stát vydavatele periodika

DE - Spolková republika Německo

Počet stran výsledku

39

Strana od-do

653-691

Kód UT WoS článku

001128871300020

EID výsledku v databázi Scopus

2-s2.0-85177589789