Approved Research

Identification of medical comorbidity and beneficial effect of loss of steroid sulfatase

Lay summary

Steroid sulfates are endogenous substances in the human body. However, the physiological functions of steroid sulfates have been ignored so far. Since a growing body of evidence indicates that steroid sulfates play essential roles in our body other than reservoirs or metabolites for excretion, we aim to explore the novel functions of steroid sulfates.

Steroid sulfates reportedly play important roles in many different conditions in vitro. However, there was no good way to examine the role of steroid sulfates in vivo. X-linked ichthyosis (XLI) caused by loss of steroid sulfatase shows increased steroid sulfates, so examining medical records of XLI patients will provide invaluable information about the role of steroid sulfates.

The application estimates a duration of 3 years. By completing this project, our understanding of the role of steroid sulfates will be improved much more. There are several landmark cases where human mutations hint at developing a new drug. For example, human mutations guided the development of anti-atherosclerosis drugs such as inhibitors of PCSK9 and angiopoietin-related protein 3 (ANGPTL3). If we find the beneficial effect of steroid sulfates, steroid sulfatase can be a promising drug target to improve human health.