BioWorld International Correspondent
PARIS - Researchers at the French National Genotyping Center and other research establishments in France and Algeria localized and identified a new gene involved in a rare genetic disease - genodermatosis, or Kindler's syndrome.
The gene, which the research team propose to baptize "kindlerin," is located on chromosome 20.
Kindler's syndrome, which affects both men and women, is an infection of the skin and the digestive and urinary mucous membranes that results in a detachment of the skin and erythemas following exposure to the sun.
To induce the disease, which is recessive, both copies of the gene (the father's and the mother's) have to be mutated. The gene codes for a protein involved in the stability of the epidermis, especially the cellular adhesion process. That is why, when this protein no longer functions normally, the integrity of the membranes is no longer assured.
The researchers stress the extreme rarity of this disease, which makes it particularly hard to study. Up to now, fewer than 100 sufferers have been recorded worldwide, and there are only a few families in which two or more members are affected.
In this case, the dermatological diseases group of the National Genotyping Center, located in France's national biotechnology science and business park at Evry, working in collaboration with the Bab-el-Oued hospital in Algiers and research teams at two hospitals in the Paris region, studied five families in North Africa and Senegal with at least one member suffering from Kindler's syndrome.
They found that the "kindlerin" gene was mutated in four of the five families, leading the head of the NGC research team, Judith Fischer, to point out that Kindler's syndrome is "probably a genetically heterogeneous disease. It would thus be interesting to extend our research to other families in order to see whether, in the presence of identical symptoms, other mutated genes might be found." And she added: "We certainly have identified one piece of the puzzle; we now have to reconstitute the puzzle."
The researchers describe their discovery in a paper titled "Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome," published in the April 15, 2003, edition of Human Molecular Genetics.