PAM variants in patients with thyrotrophinomas, cyclical Cushing's disease and prolactinomas.

ABSTRACT:

Introduction

Germline loss-of-function variants in PAM, encoding peptidylglycine α-amidating monooxygenase (PAM), were recently discovered to be enriched in conditions of pathological pituitary hypersecretion, specifically: somatotrophinoma, corticotrophinoma, and prolactinoma. PAM is the sole enzyme responsible for C-terminal amidation of peptides, and plays a role in the biosynthesis and regulation of multiple hormones, including proopiomelanocortin (POMC).

Methods

We performed exome sequencing of germline and tumour DNA from 29 individuals with functioning pituitary adenomas (12 prolactinomas, 10 thyrotrophinomas, 7 cyclical Cushing's disease). An unfiltered analysis was undertaken of all PAM variants with population prevalence <5%.

Results

We identif

SUBMITTER: De Sousa SMC 

PROVIDER: S-EPMC10710132 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature