When the myelin is mainly affected, we speak of HMSN type 1. We have known for a long time that HMSN type 1 is caused by an excess of a protein called PMP22. We didn’t understand for a long time why this too much causes a thinning myelin layer around the nerve – until now. Recent research in the lab has shown that certain cells in HMSN stop producing cholesterol, even though cholesterol is very much needed to restore the protective layer. This disturbed cholesterol production could therefore be an important factor in the disease course of HMSN. And more importantly, may offer opportunities for the development of a therapy.
“Our research group was one of the first to discover the genetic cause of HMSN type 1 30 years ago,” says researcher Frank Baas. “We then conducted research into how the disease progresses. Recently we have begun to understand that the production of cholesterol and other fats plays a key role in this disease and that this is directly related to the genetic cause that we unraveled 30 years ago. It is very exciting to be able to take the next step now and to start working on new therapeutic options.”