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ea0073pep1.6 | Presented ePosters 1: Adrenal and Cardiovascular Endocrinology | ECE2021

ARMC5 modifies cell redox state to regulate steroidogenesis and lipid metabolism in the adrenal cortex

Isadora Pontes Cavalcante , Rizk-Rabin Marthe , Perlemoine Karine , Ribes Christopher , Jerome Bertherat , Ragazzon Bruno

BackgroundARMC5 is a putative tumor suppressor gene that is frequently mutated in primary bilateral macronodular adrenal hyperplasia (PBMAH), a rare cause of Cushings syndrome. The function of ARMC5 is poorly known, aside the fact that it regulates cell apoptosis and adrenal steroidogenesis in by mechanisms still unknown. Tumor suppressor genes play an important role in oxidative stress.MethodsIn this s...

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ea0063gp102 | Adrenal and Neuroendocrine - Basic | ECE2019

Development of a simple experiment to distinguish ARMC5 missense mutants from rare ARMC5 polymorphisms in PBMAH patients using a quantitative western blot approach

Vaczlavik Anna , Espiard Stephanie , Ribes Christopher , North Marie-Odile , Drougat Ludivine , Ragazzon Bruno , Rizk-Rabin Marthe , Bertherat Jerome

Introduction: Germline inactivating ARMC5 (Armadillo repeat containing 5) mutations are responsible for Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH). ARMC5 presents the characteristics of a tumor suppressor gene. Mutations are observed in more than 85% of patients with a clear familial presentation and 20 to 25% of apparently sporadic cases. Genetic alterations are spread all over ARMC5 coding sequence and more than two-third of them ar...

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ea0081yi6 | Young Investigator Awards | ECE2022

Integrated genomics reveals the molecular classification of Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH), correlating with specific profiles of illegitimate receptors expression and identifies KDM1A as the genetic cause of food-dependent Cushing syndrome

Bouys Lucas , Violon Florian , Vaczlavik Anna , Gaetan Giannone , Jouinot Anne , Armignacco Roberta , Cavalcante Isadora Pontes , Berthon Annabel , Letouze Eric , Vaduva Patricia , Barat Maxime , Fideline Bonnet , Perlemoine Karine , Ribes Christopher , Sibony Mathilde , North Marie-Odile , Espiard Stephanie , Haissaguerre Magalie , TAUVERON Igor , Guignat Laurence , Groussin Lionel , Dousset Bertrand , Reincke Martin , Barisson Villares Fragoso Maria Candida , Stratakis Constantine A , Pasmant Eric , Libe Rossella , Assie Guillaume , Ragazzon Bruno , Bertherat Jerome

Introduction: In Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH), cortisol secretion may be consecutive to physiological stimuli, through the illegitimate expression of G-protein coupled receptors (GPCR) in adrenocortical cells. The most characterized is the overexpression of GIP receptor (GIPR) leading to food-dependent Cushing syndrome (FDCS) but it has not been associated with the consecutive inactivation of ARMC5 responsible for 25% of PBMAH. This work aimed to ...

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Endocrine Abstracts

ARMC5 modifies cell redox state to regulate steroidogenesis and lipid metabolism in the adrenal cortex

Development of a simple experiment to distinguish ARMC5 missense mutants from rare ARMC5 polymorphisms in PBMAH patients using a quantitative western blot approach

Integrated genomics reveals the molecular classification of Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH), correlating with specific profiles of illegitimate receptors expression and identifies KDM1A as the genetic cause of food-dependent Cushing syndrome

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