Die Rolle des Parathormonrezeptors Typ 1 bei der primären Zahndurchbruchsstörung

Zusammenfassung

Die primäre Zahndurchbruchsstörung (primary failure of tooth eruption, PFE) ist eine autosomal-dominante Erkrankung welche insbesondere zu einer Störung des Durchbruchs posteriorer Zähne führt und klinisch durch einen seitlich offenen Biss imponiert. Mittlerweile konnten eine Vielzahl von heterozygoten Mutationen des Typ 1 Parathormonrezeptors (PTH1R) mit dem Vorliegen einer PFE in Verbindung gebracht werden. Die Mutationen können alle funktionellen Bereiche des PTH1R erfassen, oder als Deletionsmutanten zu einem verkürzten Rezeptor führen. Erste Untersuchungen mittels in vitro Zellmodellen zeigten Änderungen der Lokalisation des mutierten Rezeptors und dominant negative Effekte auf den Wildtyp-PTH1R.

In diesem Übersichtsartikel werden die klinischen Charakteristika der PFE dargestellt und die Problematik der therapeutischen Optionen erörtert. Erste funktionelle Untersuchungen einzelner PTH1R-Mutanten werden erörtert.

Abstract

Primary failure of tooth eruption (PFE) is an autosomal dominant disease which mainly affects the eruption of posterior teeth leading to a lateral open bite. A variety of mutants of the type 1 parathormone receptor (PTH1R) was associated with clinical PFE. These mutations can be located in all functional regions of the PTH1R and may also lead to truncated receptors. First investigations with selected mutants using in vitro cell models showed changes of the cellular localization of the mutated receptors as well as dominant negative effects on the wild type PTH1R.

This short review summarizes the clinical characteristics of PFE and the problems of therapy. First functional investigations of PTH1R mutants will be discussed.

Schlüsselwörter

Primäre Zahndurchbruchsstörung - PTH1R - Mutationen

Key words

primary failure of tooth eruption (PFE) - PTH1R - Mutants

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