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Gene found for Papillon-Lefevre syndrome--a disorder affecting skin and gums

An international team of scientists has tracked down the gene responsible for Papillon-Lefevre syndrome (PLS), a rare but devastating condition that produces areas of thick, cracked skin and causes people to lose all their teeth by the time they are young adults. The rapid loss of both baby and permanent teeth mirrors the most severe forms of periodontal (gum) disease. The investigators feel that identification of the gene for PLS may help determine the process by which periodontal disease attacks the general population.

Dr. Thomas Hart of the University of Pittsburgh directed the study that examined the DNA from five Turkish families that had both normal and PLS-affected members. By following the inheritance pattern of known DNA markers, the responsible gene was narrowed to a small region of chromosome 11.

A detailed analysis of this region found mutations in the gene that codes for an enzyme called cathepsin C. The study, which was supported by the National Institute of Dental and Craniofacial Research, appears in the December issue of the Journal of Medical Genetics.

"The identification of cathepsin C mutations in PLS will help scientists to better understand both normal and abnormal development of the skin and gums," said Dr. Hart. "Understanding how defective cathepsin C causes destruction of the gums in PLS may help us understand what causes more common forms of periodontal disease. We are currently evaluating this gene as a possible indicator of periodontal disease susceptibility. Also, because of the easy access to skin and gingival tissues, cathepsin C gene therapy may prove valuable for treating PLS and similar conditions."

Periodontal disease is usually considered a disease of adults, but some forms do occur soon after the baby teeth appear in the mouth. The causes of all variations of the disease are complex and thought to have genetic, bacterial, and immune system components. The type of gum disease associated with PLS is unusua
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Contact: Wayne Little
wayne.little@nih.gov
301-496-4261
NIH/National Institute of Dental and Craniofacial Research
7-Dec-1999


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