Lipoid proteinosis is a relatively rare disorder that is relatively common in parts of South Africa due to an odd accident of history — a single man with the genetic defect that causes the disease emigrated to South Africa in 1650 and the disease is present in dozens of families in South Africa today. The disease causes chicken pox-like scars at first, but eventually progresses to causing epilepsy and even brain disorders.
Researchers at St. John’s Institute of Dermatology at King’s College in London claim they have identified the specific gene mutation that causes the disease. If confirmed, this would make it possible to screen for the disease as well as work on better treatments. And for the rest of us, it could lead to advanced in treating the aging of skin.
The mutation occurs on a gene that codes for the creation of extracellular matrix protein (ECM). Researchers believe that ECM is the “glue” that holds together the various chemicals that are necessary to produce skin. Find a way to maintain or even boost ECM levels could offer a viable treatment for making skin healthier and stronger for far longer in life.
Source:
Skin gene could fight ageing. The BBC, April 1, 2002.