Endocrine Abstracts

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...

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The anorexigenic hormone leptin seems to be the principal adiposity indicator and signal of the state of nutrition, as its plasma levels are highly correlated to adipocyte number and fat content. The elucidation of the causes of monogenic forms of obesity has benefited from the positional cloning of a series of mouse obesity genes, including those that encode leptin, the leptin receptor (LEPR). Targeted genetic manipulation has also established the vital regulatory role of mol...

Body Mass Index is an inheritable trait, and the intra familial relative risk to develop obesity is around 5. Genome Scans in Human provided a number obesity loci. The most replicated regions of linkage map on chromosome 2p, 7q and 10p but other potentially strong loci have been found on chromosome 4, 5, 6, 11, 12, 20..The availability of extensive data bases of SNPs has made possible the positional cloning of obesity. We have recently investigated chrom...

In addition to its original growth hormone-releasing function,ghrelin has been shown to exert a variety of effects on metabolism,specifically in terms of the regulation of body habitus and fat. Itincrease food intake and body weight, and regulates energyhomeostasis: it also increases glucose levels, reduces insulinsecretion and regulates downstream insulin signa...

Ghrelin is an orexigenic hormone, the endogenous ligand of the previously orphan growth-hormone-secretagogue receptor (GHS-R). Recently, it has been reported that pancreatic beta-cells are replaced by ghrelin-producing cells in a diabetic mice model implicating these genes as attractive candidates in the aetiology of type 2 diabetes (T2D) (PNAS;101:2924). The ghrelin gene is located at 3p25-26 and its cognate receptor at 3q26. We aimed to test for an association of these two g...

A number of single nucleotide polymorphisms (SNPs) have been identified in the GHRH receptor gene. Two of these SNPs, A57T and V225I, have been found to cause an increased cAMP response to GHRH stimulation in vitro, and it has been suggested that they may be associated with the abnormal biochemistry in patients with somatotroph adenomas. The objective of this study was to clarify the frequencies of these SNPs in the normal population and in subjects with short stature. The sub...

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...

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...