Confirmation of oxidative stress and fatty acid disturbances in two further Papillon-Lefèvre 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.