Mutations in complement factor genes cause periodontal Ehlers Danlos syndrome
Periodontitis is a chronic inflammation affecting the tooth supporting tissue, consisting of the gingivae, alveolar bone, periodontal ligaments/fibers and root cementum. The disease is triggered by commensal micro-organisms that colonise the tooth surface and induce an immune response, both of the innate and adaptive immune system. Ultimately the result of periodontitis is loss of teeth. The severity of the disease is not dependent on the amount commensal bacteria on the tooth surface, but rather on the host-susceptibility and immune response.
Periodontal Ehlers Danlos syndrome (pEDS), is a subtype of the connective tissue disease Ehlers Danlos syndrome. The main feature of pEDS is severe periodontitis debuting in early age with loss of teeth in young adulthood. Individuals with pEDS exhibit heterozygous missense or in-frame insertion/deletion mutations in C1R or C1S encoding the complement factors C1r and C1s in the classical complement pathway. Therefore, our research aims to unravel by which mechanisms the mutated C1R and C1S contribute to pEDS in order to find possible treatment strategies.