ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2019

11 Obesity and Weight Regulation

New Insights into Body Weight Regulation

ey0016.11-1 | New Insights into Body Weight Regulation | ESPEYB16

11.1. Genetic architecture of human thinness compared to severe obesity

F Riveros-McKay , V Mistry , R Bounds , A Hendricks , JM Keogh , H Thomas , E Henning , LJ Corbin , Understanding Society Scientific Group , S O'Rahilly , E Zeggini , E Wheeler , I Barroso , IS Farooqi

To read the full abstract: PLoS Genet. 2019; 15(1):e1007603.This genome wide association study reveals new insights into the genetic basis of thinness by investigating a large cohort of healthy persistently thin individuals. In the past, it has been speculated that inheritance of thinness may constitute a protective factor against environmental factors disposing to obesity (1). Neverthel...

ey0016.11-2 | New Insights into Body Weight Regulation | ESPEYB16

11.2. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

V Turcot , Y Lu , HM Highland , et al.

To read the full abstract: Nature Genetics 2018; 50: 26–41These authors combined data from 125 cohorts comprising more than 700,000 individuals to discover rare and low-frequency (R/LF) coding single nucleotide variants (SNVs) associated with BMI, thereby identifying novel potential targets for the treatment of obesity. They identified 14 R/LF coding SNVs in 13 genes associated with...

ey0016.11-3 | New Insights into Body Weight Regulation | ESPEYB16

11.3. Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

Y Yang , AA van der Klaauw , L Zhu , TM Cacciottolo , Y He , LKJ Stadler , C Wang , P Xu , K Saito , A Jr. Hinton , X Yan , JM Keogh , E Henning , MC Banton , AE Hendricks , EG Bochukova , V Mistry , KL Lawler , L Liao , J Xu , S O'Rahilly , Q Tong , UK10K Consortium , I Barroso , BW O'Malley , IS Farooqi , Y Xu

To read the full abstract: Nat Comm 2019; 10(1): 1718Steroid receptor coactivator (SRC)-1 mediates nuclear hormone receptors and transcription factor-dependent transcription (1), and interacts with STAT3 (2) an important mediator of leptin-induced POMC expression and hence satiety (3). Src-1 knockout mice are obese (4), however, the underlying mechanism is unclear. In a...

ey0016.11-4 | New Insights into Body Weight Regulation | ESPEYB16

11.4. Dysregulation of a long noncoding RNA reduces leptin leading to a leptin-responsive form of obesity

OS Dallner , JM Marinis , YH Lu , K Birsoy , E Werner , G Fayzikhodjaeva , BD Dill , H Molina , A Moscati , Z Kutalik , P Marques-Vidal , TO Kilpelainen , N Grarup , A Linneberg , Y Zhang , R Vaughan , RJF Loos , MA Lazar , JM Friedman

To read the full abstract: Nature Medicine 2019; 25(3):507-516.This paper shows that quantitative leptin expression is controlled by redundant cis elements and trans factors that interact with the proximal promoter together with a long noncoding RNA.Friedman’s research group discovered the adipocyte hormone leptin more than 20 years ago. They identified loss o...