Searchable abstracts of presentations at key conferences in endocrinology

ea0041ep854 | Pituitary - Basic | ECE2016

AIP inactivation leads to pituitary enlargement in the Zebrafish embryo model

Stojanovic Marko , Aflorei Elena Daniela , McGonnell Imelda , Korbonits Marta

Introduction: Patients with aryl hydrocarbon receptor-interacting protein (AIP) gene mutations are predisposed to large, invasive, GH- or PRL-secreting pituitary tumours, occurring at a younger age and poorly responsive to treatment. The zebrafish (ZF) model provides anatomical and functional similarities to human neuroendocrine system.Methods: AIP knock down (KD) ZF embryos were generated using antisense morpholino oligonucleotides injected at one-cell ...

ea0035oc12.1 | Pituitary Basic | ECE2014

Human AIP gene rescue lethality in a Drosophila melanogaster knockout model of AIP orthologue

Aflorei Elena Daniela , Chen Chenghao , Klapholz Benjamin , Brown Nick , Stanewsky Ralf , Korbonits Marta

Introduction: Heterozygote loss-of-function mutations in AIP (Aryl hydrocarbon receptor interacting protein) predispose to young-onset pituitary adenomas. Homozygote murine knockout model of AIP leads to lethality. While the majority of the 75 published AIP mutations result in truncated or missing proteins, missense mutations are more difficult to characterise and to establish their pathogenic role. We have identified the orthologue of AIP, CG1847, in Drosophila melanogaster. ...

ea0041oc5.1 | Neuroendocrinology | ECE2016

The Drosophila AIP orthologue is essential for actin cytoskeleton stabilisation and cell adhesion

Aflorei Elena Daniela , Klapholz Benjamin , Moderau Nina , Baptista-Ribeiro Paulo , Tapon Nic , Brown Nick , Stanewsky Ralf , Korbonits Marta

Introduction: Tumours with aryl hydrocarbon receptor interacting (AIP) mutations often show an unusually aggressive and invasive clinical course as up to 80% of AIP positive pituitary adenomas have a certain degree of extrasellar extension. The exact mechanisms by which AIP inactivation promotes an aggressive behaviour remain unknown. The majority of adenohypophysis is composed of sinuous cords of epithelial cells and consequently, molecules that can induce remodellin...

ea0032p825 | Pituitary–Basic (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2013

Drosophila melanogaster as a model organism to study aryl hydrocarbon receptor interacting protein gene function

Aflorei Elena Daniela , Chen Chenghao , Klapholz Benjamin , Grossman Ashley B , Tapon Nicolas , Brown Nicholas H , Stanewsky Ralf , Korbonits Marta

Introduction: Loss-of-function mutations in AIP are associated with familial isolated pituitary adenoma, often leading to gigantism due to invasive GH-secreting pituitary adenomas. One challenging problem in the management of patients carrying a missense AIP variant is to determine whether the missense variant is a disease-causing mutation or not. As most of the molecular mechanisms involved in the control of growth and the cell cycle are well-conserved, we p...

ea0038p304 | Pituitary | SFEBES2015

The founder R304* AIP mutation is prevalent in Irish acromegaly and gigantism patients as well as in the general population of Ireland

Radian Serban , Diekmann Yoan , Gabrovska Plamena , Holland Brendan , Bradley Lisa , Wallace Helen , Stals Karen , Bussell Anna-Marie , McGurren Karen , Cuesta Martin , Ryan Anthony W , Herincs Maria , Hernandez-Ramirez Laura C , Holland Aidan , Samuels Jade , Aflorei Elena Daniela , Barry Sayka , Denes Judit , Pernicova Ida , Stiles Craig E , Trivellin Giampaolo , McCloskey Ronan , Ajzensztejn Michal , Abid Noina , Akker Scott A , Mercado Moises , Cohen Mark , Thakker Rajesh V , Baldeweg Stephanie , Barkan Ariel , Musat Madalina , Levy Miles , Orme Steve , Unterlander Martina , Burger Joachim , Kumar Ajith V , Ellard Sian , McPartlin Joseph , McManus Ross , Linden Gerard J , Atkinson Brew , Thomas Mark G , Balding David J , Agha Amar , Thompson Chris J , Hunter Steve J , Morrison Patrick J , Korbonits Marta

Background: A founder mutated AIP allele, R304* was previously identified in several Irish familial isolated pituitary adenoma (FIPA) pedigrees from a small region within Mid Ulster, Northern Ireland, but the allele’s general population impact remains unknown.Aims: To estimate R304* prevalence in the general population and pituitary adenoma (PA) patients and to calculate the allele’s time to most recent common ancestor (tMRCA).<p c...