Cushing's syndrome is a metabolic disease caused by an excess of glucocorticoids (e.g. cortisol). It leads to fat distribution in the abdomen, arms, and legs are not affected, the facial shape is strikingly round, and hematomas may occur (1). Accompanying symptoms are also hypertension and diabetes, for example. Endogenous Cushing's syndrome is a rare disease: In the EU, the annual incidence is 1/1,400,000 cases (3).

Endogenous Cushing's syndrome is usually caused by benign tumors in the pituitary gland, resulting in an overproduction of adrenocorticotropin, which in turn causes the adrenal glands to secrete an excess of cortisol. The research team led by PD Dr. Silviu Sbiera and Prof. Martin Fassnacht as well as Prof. Nikita Popov from the University Hospital Tübingen already found out in 2019 using cell cultures, that there is also a mutation in the deubiquitinase gene USP48. This mutation is believed to be responsible for half of all cases.

Current surgical interventions and drug therapies often have limited efficacy and can also lead to side effects. The researchers hope to contribute to more effective treatment approaches with fewer adverse effects.

The German Research Foundation is funding the project with 580,000 euros.

Further information:
https://www.uni-wuerzburg.de/aktuelles/einblick/single/news/cushing-syndrom-ziele-fuer-effizientere-therapie-gesucht/

(1) https://www.msdmanuals.com/de-de/profi/endokrine-und-metabolische-krankheiten/st%C3%B6rungen-der-nebenniere/cushing-syndrom
(2) https://www.internisten-im-netz.de/krankheiten/cushing-syndrom/was-ist-ein-cushing-syndrom.html
(3) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=DE&Expert=553