Researchers discover gene responsible for devastating skin disease

Researchers at Tel Aviv’s Sourasky Medical Center, working with doctors at Texas Tech University in Lubbock, have uncovered the gene that controls whether or not a devastating skin disease will strike. Pemphigus vulgaris is a relatively rare disease in most of the world, but some 40% of its victims are Jews of European descent, and incidences of the disease are 40 times more likely to be found among Jews as compared with other groups. The research could lead to treatments that will prevent patients from contracting the devastating condition, which without proper treatment leads to death.

Pemphigus vulgaris (PV) is an autoimmune disease that affects the mouth and skin, with blisters developing in the mouth and then spreading to other parts of the body. Blistering can lead to fluid loss, and often the sores that develop permanently disfigure the body.

Recent research has shown that PV is a genetic disease, even though it mostly strikes men in their 50s and 60s. The disease develops when antibodies are created that interfere with cell connections on the skin’s upper levels, apparently caused by a defective gene. Studies have shown that the antibodies that cause PV run in families, and that even healthy family members who do not contract PV carry the antibodies, another indication that the disease is caused by a bad gene.

The research team, led by Dr. Ofer Sarig of Sourasky, has discovered that gene — ST18, to be precise — with genetic mutations of that gene showing up among victims of PV and carriers of the antibodies. Sarig, along with team directors Professor Eli Shprecher of Sourasky and Professor Ibrahim Salah of Texas Tech, published the findings in an article in the most recent edition of the Journal of Investigative Dermatology.

“Despite the fact that PV is an ultra-rare disease worldwide, the fact that it affects so many Jews allowed us to conduct our research among a population of the largest group of PV sufferers ever studied. This allowed us to search for the genetic variations that cause a tendency to contract PV from the entire genome, and not just in isolated genetic areas, as had been done until now,” said Sarig. “This discovery provides us with much more than information and understanding about PV. The information we have discovered opens up vistas for development of new ways to treat PV.”