USP8 mutation in Cushing's disease.

Chuanxin Huang,Yongyong Shi,Yao Zhao

doi:10.18632/oncotarget.4856

Abstract

USP8 mutation in Cushing's disease.

Highlights

Pituitary corticotroph adenomas, referred to as Cushing’s disease (CD), secret large amounts of adrenocorticotropic hormone (ACTH), resulting in excess glucocorticoids and hypercortisolism [1]
Two recent studies demonstrated that the ubiquitin-specific protease 8 (USP8) gene is frequently mutated in corticotroph adenomas [2,3]
The later study reported that USP8 mutation was undetected in other pituitary adenoma types, including somatotroph adenomas and prolactin-secreting adenomas

Summary

Introduction

Referred to as Cushing’s disease (CD), secret large amounts of adrenocorticotropic hormone (ACTH), resulting in excess glucocorticoids and hypercortisolism [1]. The later study reported that USP8 mutation was undetected in other pituitary adenoma types, including somatotroph adenomas and prolactin-secreting adenomas. All identified USP8 mutations are located within or adjacent to the 14-3-3 binding motif (RSYSS) of the USP8 protein. Three identified dominant USP8 mutants failed to bind to 14-3-3 protein and displayed elevated DUB activity through testing the epidermal growth factor receptor (EGFR) as substrate.

Results

Conclusion