Endocrine Abstracts

Andrew Hattersley, Peninsula Medical School, Plymouth, UK AbstractAndrew Hattersley qualified from Oxford in 1984. He trained in Diabetes at the Hammersmith Hospital, Oxford and Birmingham before taking up his present post as a consultant Diabetologist in Exeter in 1995.His principal area of research is the molecular genetics of diabetes with a particular emphasis on monogenic diabetes. He has ta...

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...

Genetic factors play a critical role in Type 2 diabetes as shown by family, twin and migration studies. Whilst the rising prevalence of Type 2 diabetes reflects increasing food intake and reduced exercise it is the genetically susceptible individuals and races who are most likely to develop diabetes. Recent evidence has supported a genetic rather than the "fetal malnutrition" explanation of the association of low birth weight with diabetes. Low birth weight in the offspring of...

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Defining the molecular genetics of diabetes gives new insight into the underlying aetiology. Recent work in Type 2 diabetes has suggested that the majority of genes to date result in beta-cell dysfunction but the impact of each polymorphism is relatively modest. In contrast patients with beta-cell monogenic diabetes have beta-cell dysfunction as the result of mutation of a single gene and these allow new insights into subtypes of beta-cell dysfunction and their therapeutic res...

Insulin is a crucial growth factor in utero as well as the key post natal determinant of blood glucose. Mutations in beta-cell genes altering insulin secretion therefore present with both altered birth weight and also hyper or hypoglycaemia. Recent advances in the genetics of neonatal diabetes and neonatal hyperinsulinism give key insights to beta-cell physiology as well as offering improved clinical management.In the genes encoding key beta-cell ...

Background: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by various combinations of tumours of the parathyroid, enteropancreatic and anterior pituitary glands. With the identification of the MEN1 gene, the genetic diagnosis of this condition is now possible. In this study, we have examined whether different clinical presentations of MEN1 are more likely to yield positive mutation result.Methods: We analysed t...

Diabetes arising in young adulthood has a wide differential diagnosis, including autoimmune and genetic causes as well as young onset type 2 diabetes (YT2D). Specific features may be associated with each of these groups, but they cannot be differentiated from YT2D by mode of presentation. Family history, clinical characteristics and laboratory investigations provide complementary strategies to help dissect different known aetiologies.We studied 268 UK Ca...

Heterozygous mutations in the transcription factor, hepatocyte nuclear factor 1b (HNF1B), result in multisystem disease including diabetes due to beta-cell dysfunction and pancreatic hypoplasia. However, the mechanisms that underlie development of diabetes in HNF1B mutation carriers are still not fully understood due to lack of an appropriate animal model system. Human pluripotent stem cells (PSCs), which are capable of self-renewal and can differentiate into any cell type, ar...