Enzyme deficiency causes skin disease

Medical researchers at FAU discover trigger for severe form of psoriasis

Human geneticists at FAU have identified an enzyme deficiency as the trigger for generalised pustular psoriasis, a particularly severe form of psoriasis. The results of the study, which have been published in the American Journal of Human Genetics, could lead to new possibilities for treatment.

Generalised pustular psoriasis (GPP) is a rare, severe form of psoriasis, which causes a general inflammatory reaction in the body and can at times even lead to life-threatening flare-ups. GPP is triggered by an imbalance in inflammatory and anti-inflammatory proteins in a messenger substance in the skin. It is known that this imbalance is caused by defects in the IL36RN gene in approximately one quarter of cases. However, it was unknown what the genetic cause for the disease was in the other patients until now.

In a study within the context of the DFG Collaborative Research Centre 1181 involving a total of 74 patients, researchers at FAU led by Prof. Dr. Ulrike Hüffmeier from the Institute of Human Genetics investigated further causes for GPP, and came up with a possible solution. Approximately 20 percent of patients were shown to have a defect in a gene which encodes the enzyme myeloperoxidase (MPO). All defects in the MPO gene which were discovered led to a partial or complete deficiency in the enzyme. MPO is present in the most common type of white blood cell, neutrophilic granulocytes. This type of cell has a central role to play in the inflammatory reaction of the rare type of psoriasis. MPO regulates inflammation via oxidative processes and at a cellular level.

As MPO inhibitors are used to treat arteriosclerosis and other cardiovascular diseases, these findings might not only be useful for finding new approaches to treating skin diseases, but may also have consequences for this method of treating cardiac disease.

Further information

DOI: 10.1016/j.ajhg.2020.07.001

Prof. Dr. Ulrike Hüffmeier
Phone +49 9131 85 45629
ulrike.hueffmeier@uk-erlangen.de