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

[papillon-lefÃ¨vre syndrome]

We have previously reported oxidative and fatty acids disturbances in one Papillon-LefÃ¨vre 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 .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 , CoQ 10 , lipid hydroperoxides (HP ) and fatty acid patterns .Pathogenic CTSC mutations were identified in both families including a new mutation (c 504 C >G ). Both probands showed low levels of vitamin E and CoQ 10 , and high levels of lipid HP , and also very low levels of docohexaenoic acid .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 .

Diseases
Validation

Diseases presenting "mutations in the cathepsin c (ctsc) gene" symptom

papillon-lefÃ¨vre syndrome

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