ESPE Yearbook of Paediatric Endocrinology

Abstract: Endocrinology. 2018 Mar 1;159(3):1469–1478.In brief: In this article, a combination of microdissection, miroRNA profiling and transfection studies identify 3 microRNAs that are highly expressed in the proliferative zone and appear to be down-stream mediators of PTHrP signaling in the growth plate.Comment: In the growth plate, P...

In Brief: These authors identify a frameshift truncating variant in the gene SPIN4 (Spindlin member 4) in a patient with skeletal overgrowth, hepatosplenomegaly and macrocephaly. Using state-of-the-art mouse models and histone peptide arrays, they delineate the underlying pathogenic mechanism and show that SPIN4 positively regulates Wnt signalling by functioning as an epigenetic reader.Commentary: Generalized overgrowth disorders are ch...

Abstract: Mol. Ther. 2019;27:673–680.In brief: The authors developed a fusion protein containing a cartilage-targeting antibody fragment and Insulin-like growth factor 1 (Igf1) and demonstrate that it can stimulate growth plate cartilage at lower and less frequent doses than Igf1. This is a novel approach that paves the way for the development of tissue-specific target...

Abstract: PLoS Biol. 2018 Jul 23;16(7):e2005263.In brief: In this article, Lui et al, make important observations related to the fundamental limits of longitudinal bone growth implicating the growth plate senescence program as a major regulator of bone size.Comment: A person’s right and left arms almost always grow to the same length, bu...

To read the full abstract: J Endocr Soc 2017;1:1006-1011Besides its structural role in the extracellular matrix, aggrecan orchestrates a plethora of key mechanisms in endochondral ossification, such as embryonic morphogen distribution, regular indian hedgehog (IHH) / Sox9 expression and columnar chondrocyte orientation. Thus, homozygous loss-of-function mutations in the ACAN gene, encoding...

To read the full abstract: Nature Medicine. 2019;25(11):1733–8. PMID 31700171.These authors sequenced the gene for melanocortin-2 receptor accessory protein (MRAP2 ) in 9418 blood DNA samples from several population studies. They detected 23 rare heterozygous variants, which were significantly associated with an increased risk of obesity (OR 3.8 in children and 2.9 in adults)....