ISSN 1662-4009 (online)

ey0019.14-5 | Steroidogenesis and beyond | ESPEYB19

14.5. Embryonic osteocalcin signalling determines lifelong adrenal steroidogenesis and homeostasis in the mouse

VK Yadav , JM Berger , P Singh , P Nagarajan , G Karsenty

J Clin Invest 2022;132(4):e153752 doi: 10.1172/JCI153752Brief summary: Using rodent and primate models, this study shows a classical endocrine feedback loop, where bone-derived osteocalcin enhances adrenal steroidogenesis, and the inactivation of osteocalcin signalling impairs adrenal growth and steroidogenesis.This study provides important evidence on the existence of the bo...

ey0018.6-2 | Basic and Genetic Research of DSD | ESPEYB18

6.2. Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene

C Eozenou , N Gonen , MS Touzon , A Jorgensen , SA Yatsenko , L Fusee , AK Kamel , B Gellen , G Guercio , P Singh , S Witchel , AJ Berman , R Mainpal , M Totonchi , A Mohseni Meybodi , M Askari , T Merel-Chali , J Bignon-Topalovic , R Migale , M Costanzo , R Marino , P Ramirez

Proc Natl Acad Sci USA. 2020 Jun 16;117(24):13680–13688. 10.1073/pnas.1921676117. PMID: 32493750.On the search for a genetic cause for 46,XX virilization due to testicular (TDSD) or ovotesticular DSD (OTDSD), 78 individuals were studied by whole exome sequencing. In 7 cases, heterozygous de novo variants were found in the 4th zinc finger (ZF4) of the Wilms tumor 1 gene (<em...

ey0020.13-1 | Section | ESPEYB20

13.1. Taurine deficiency as a driver of aging

P Singh , K Gollapalli , S Mangiola , D Schranner , MA Yusuf , M Chamoli , SL Shi , B Lopes Bastos , T Nair , A Riermeier , EM Vayndorf , JZ Wu , A Nilakhe , CQ Nguyen , M Muir , MG Kiflezghi , A Foulger , A Junker , J Devine , K Sharan , SJ Chinta , S Rajput , A Rane , P Baumert , M Schonfelder , F Iavarone , G di Lorenzo , S Kumari , A Gupta , R Sarkar , C Khyriem , AS Chawla , A Sharma , N Sarper , N Chattopadhyay , BK Biswal , C Settembre , P Nagarajan , KL Targoff , M Picard , S Gupta , V Velagapudi , AT Papenfuss , A Kaya , MG Ferreira , BK Kennedy , JK Andersen , GJ Lithgow , AM Ali , A Mukhopadhyay , A Palotie , G Kastenmuller , M Kaeberlein , H Wackerhage , B Pal , VK Yadav

In Brief: The authors describe a wide range of studies. Firstly, observational studies showed that circulating taurine concentrations decline with age in mice, monkeys, and humans – and in the latter, low taurine was associated with metabolic disease (abdominal fat, blood pressure, Type 2 diabetes). They then gave oral taurine to mice throughout their lives and showed that this increased lifespan by 10–12% and improved functional outcomes of almost all tissues studie...