Open AccessGene mutations in Cushing's disease
Author(s) -
Qi Xiong,
Wei Ge
Publication year - 2016
Publication title -
biomedical reports
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.607
H-Index - 25
eISSN - 2049-9442
pISSN - 2049-9434
DOI - 10.3892/br.2016.729
Subject(s) - corticotropic cell , cushing's disease , gene , biology , adrenocorticotropic hormone , cancer research , mutation , molecular medicine , oncogene , pituitary gland , genetics , disease , endocrinology , medicine , cell cycle , hormone
Cushing's disease (CD) is a severe (and potentially fatal) disease caused by adrenocorticotropic hormone (ACTH)-secreting adenomas of the pituitary gland (often termed pituitary adenomas). The majority of ACTH-secreting corticotroph tumors are sporadic and CD rarely appears as a familial disorder, thus, the genetic mechanisms underlying CD are poorly understood. Studies have reported that various mutated genes are associated with CD, such as those in menin 1, aryl hydrocarbon receptor-interacting protein and the nuclear receptor subfamily 3 group C member 1. Recently it was identified that ubiquitin-specific protease 8 mutations contribute to CD, which was significant towards elucidating the genetic mechanisms of CD. The present study reviews the associated gene mutations in CD patients.