ESPE Yearbook of Paediatric Endocrinology

Nat Commun. 2021 Jan 11;12(1):256. doi: 10.1038/s41467-020-20511-7. PMID: 33431871.These authors report two Mll4 mutant mouse models that exhibited dwarfism and altered development of GHRH−neurons.Inactivating mutations in KDM6A (aka UTX) or KMT2D (aka MLL4) genes result in Kabuki syndrome (KS), whose hallmarks in...

Brief Summary: This experimental study quantified the physiological contribution of pancreatic δ-cells to the glycemic set point. It used 3 orthogonal mouse models to remove somatostatin (SST) signalling within the pancreas or transplanted islets. Ablation of δ-cells or SST decreased the glycemic set point, and the glucose threshold for insulin response from β-cells, leading to increased insulin secretion to the same glucose challenge.The ...

Brief summary: This pooled study, including five cross-sectional or intervention studies (n=24–823) and using publicly available data from genome-wide association studies (GWAS) to perform Mendelian randomization, investigated the influence of glucose, insulin, body fat, body mass index (BMI), food intake, and physical activity on serum soluble leptin receptor (sOb-R) levels. The authors showed that insulin and BMI were associated with decreased serum sOb-R level...

To read the full abstract: JAMA. 2019;322(6):514–523. doi: 10.1001/jama.2019.10329Some children have a high genetic risk to develop type 1 diabetes (T1DM) and/or celiac disease. However, environmental factors may modify such risks. One arm of the TEDDY study assessed the influence of high gluten intakes on the development of celiac disease in genetically high risk children.<p clas...