ACTH receptor pathway defects as the cause of Familial Glucocorticoid Deficiency type 3 (FGD3)

点击翻译按钮获取中文摘要

I am interested in a rare disease called Familial Glucocorticoid Deficiency (FGD). Patients with this disease do not have a mechanism to cope with stress. If their body becomes stressed, for example by illness, their blood sugar levels drop, they become liable to infections and they may die if untreated. ACTH is the hormone that is produced in response to stress and the ACTH receptor is the protein that recognises ACTH and causes the changes that help the body to cope with the stress. FGD can be caused by a defective ACTH receptor (ACTHR) in a quarter of all cases. In the other three quarters the ACTHR is normal. However we have recently discovered another gene called MRAP that also causes the disease. This gene makes a protein that is needed for the correct functioning of the ACTHR. Exactly how this mechanism works is not fully understood and we believe that other genes may also be necessary. Currently we are searching for these genes by seeing if they interact with the ACTHR and MRAP and by studying the genetic make-up of FGD patients. When we find these other genes and find out what they do we will have a better understanding of how this hormone receptor works. We hope that this knowledge may also shed light on other diseases, such as childhood obesity, that are caused by defects in similar receptor systems.