Endocrine Abstracts

The immune dysregulation, polyendocrinopathy and enteropathy, X-linked syndrome (IPEX), is a rare and devastating condition of male infants. Immune mediated diabetes and enteropathy occur before 6 months of age and other manifestations include hypothyroidism, recurrent infections and eczema. In 2001, IPEX was mapped to Xp11, an orthologous region to that for the murine model of T cell dysregulation, scurfy, and mutations in the forkhead transcription factor gene, FOXP3,...

Graves' disease (GD) is inherited as a complex trait and previous studies have identified linkage and association of both GD and type 1 diabetes to markers on chromosome 18q21. A candidate gene for autoimmunity that is contained within the critical interval on 18q21 is the apoptosis regulator 'Deleted in Colorectal Carcinoma' (DCC).317 Graves' disease probands and 311 controls were genotyped for a single nucleotide polymorphism that encodes a glycine to ...

Introduction: Insulin-like growth factor 1 (IGF-1), acting via similar signalling pathways to insulin, enhances glucose uptake and nitric oxide (NO) production. Observational studies suggest a role for (IGF-1) in insulin resistance and cardiovascular disease. To investigate this further we used a murine model with heterozygous knockout of the IGF-1 receptor.Methods: Metabolic tolerance tests were performed in vivo on unanaesthetised mice, heterozy...