Abstract
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
Highlights
Adrenocorticotropic hormone (ACTH)-secreting pituitary tumors are responsible for a rare condition named Cushing’s disease (CD)
USP8 and USP48, here we describe a novel USP8 variant located in exon 14, upstream of the 14-3-3 protein binding motif and its functional characterization, contributing to enlarging the genetic landscape of Cushing’s Disease (CD)
We found that cells expressing G664R USP8 had increased ACTH secretion compared to empty vector control cells (+114.5 ± 53.6, p < 0.05) and those expressing WT USP8, and had similar ACTH secretion compared to those expressing S718del USP8 and USP8-C40 (Figure 2a)
Summary
Adrenocorticotropic hormone (ACTH)-secreting pituitary tumors are responsible for a rare condition named Cushing’s disease (CD). The prevalence of CD is around 30–40 cases per million inhabitants per year and the incidence is. 1–2 per million per year; the female:male ratio is 3:1 and the age of onset mainly occurs during the fourth to sixth decades of life. [1] The first-line treatment for CD is transsphenoidal surgery excision of ACTH-secreting tumor from the pituitary. Remission is observed in about 70–90% of patients, with a 15–25% of recurrence risk and a 20–30%. The pathogenetics of CD remained a puzzling issue for a long time, principally because the search for responsible candidate genes was hampered by the small size of surgical tumors and by the rareness of the disease. An important breakthrough arrived thanks to the recent identification of mutated genes in ACTH-secreting tumors by exome sequencing
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