Endocrine Abstracts

Implicit in the justification for the enormous increase in investment in bio-molecular research that has occurred over the past 20 years has been the promise that this would provide insights relevant to the understanding of human pathophysiology and the ultimate alleviation of suffering from human disease. To this end, model organisms are enormously attractive as they provide tractable and controllable systems in which precise and ‘clean’ data can be obtained. In con...

First described in 1956, Prader-Labhart-Willi syndome is a rare, complex neurodevelopmental disorder characterised by short stature, disturbed body composition with hyperphagia and hypoactivity, hypogonadism, cryptorchidism, oligophrenia, behaviour problems as well as extreme muscular hypotonia in the neonatal period. Its estimated prevalence ranges from 1:15,000–25,000 and it is caused by an absence of expression of paternally active genes in the PWS critical region on c...

We have screened the human PPARγ gene in a cohort of subjects with severe insulin resistance and identified defects in nine unrelated families. Heterozygous mutations in affected individuals cosegregate with a phenotype which includes stereotyped (gluteal, limb) partial lipodystrophy, early-onset hypertension, dyslipidaemia and hepatic steatosis. Pathogenesis of the phenotype involves abnormal metabolism of dietary fat intake, with elevated circulating lipids and fat oxid...

The molecular genetics of monogenic diabetes have been defined in the last decade. Most of these genes result in beta-cell dysfunction. Studying these patients has given new insights into the role of key genes in the fetal and adult beta-cell.Hepatic Nuclear Factor (HNF)-1β mutations causing renal cysts and diabetes (RCAD). HNF-1β mutations are associated with reduced beta-cell development resulting in diabetes, exoc...