Searchable abstracts of presentations at key conferences in endocrinology

ea0020pl4 | Genetics of diabetes and obesity | ECE2009

New insight in the genetics of type 2 diabetes and obesity from genome wide associations studies

Froguel Philippe

Recent large twin studies have definitively shown that more than 70% of the variance of the BMI and waist is genetically determined in both adults and children, suggesting that the epidemics of obesity and subsequent T2D are mainly due to the environmental pressure targeting individuals who are particularly vulnerable to metabolic diseases. The dissection of monogenic early onset severe obesity and T2D cases have identified a variety of causative genes that are involved in two...

ea0081ep356 | Diabetes, Obesity, Metabolism and Nutrition | ECE2022

A unique family with early-onset, severe obesity and hypopituitarism harboring different POMC pathogenic mutations.

Le Collen Lauriane , Delemer Brigitte , Poitou-Bernert Christine , Martine Vaxillaire , Michel Petit Jean , Alexandru Saveanu , Karine Clement , Philippe Froguel , Amelie Bonnefond

Objective: We describe two first cousins presenting with neonatal corticotropic deficiency and severe, early-onset obesity. This study aims to identify the molecular etiology of these disorders in both cases and highlights the limits of genetic investigations.Methods: We collected the clinical-biological data of the family and, more particularly, of the two first cousins (A and B). We performed several constitutive Next-generation Sequencing (NGS) protoc...

ea0088005 | Abstracts | BES2022

Identification of myokines potentially involved in the improvement of glucose homeostasis after bariatric surgery

Laura Orioli , Mickael Canouil , Kiswendsida Sawadogo , Lijiao Ning , Louise Deldicque , Pascale Lause , Barsy Marie de , Philippe Froguel , Audrey Loumaye , Yannick Deswysen , Benoit Navez , Amelie Bonnefond , Jean-Paul Thissen

Purpose: Our study aims to identify myokines potentially involved in improved glucose homeostasis after bariatric surgery.Methods: Obese patients were evaluated before and 3 months after bariatric surgery. Insulin resistance was assessed using the Homeostasis Model Assessment (HOMA) test. Muscle biopsies were taken from vastus lateralis. Genes encoding myokines involved in glucose homeostasis were identified using RNA-sequencing. Changes in myokines expr...