Confirmation of oxidative stress and fatty acid disturbances in two further Papillon-Lef?vre syndrome families with identification of a new mutation

Background: We have previously reported oxidative and fatty acids disturbances in one Papillon-Lefèvre syndrome (PLS) family. This Mendelian condition characterized by palmar plantar keratosis and severe aggressive periodontitis, is caused by mutations in the cathepsin C (CTSC) gene. In this study, we have analysed two further unrelated PLS families to confirm this association. Methods: Mutations were identified by direct sequencing of CTSC. Biochemical analyses were performed in probands and their relatives in order to determine plasma levels of vitamin E, CoQ10, lipid hydroperoxides (HP) and fatty acid patterns. Results: Pathogenic CTSC mutations were identified in both families including a new mutation (c504C>G). Both probands showed low levels of vitamin E and CoQ10, and high levels of lipid HP, and also very low levels of docohexaenoic acid. Conclusions: The previously reported oxidative and fatty acids disturbances were confirmed as a feature of this condition in two further families. There are low levels of antioxidant markers and high levels of oxidative markers, in addition of low levels of some anti-inflammatory fatty acids in persons suffering PLS and some of their relatives.