Searchable abstracts of presentations at key conferences in endocrinology

ea0019p123 | Diabetes, Metabolism and Cardiovascular | SFEBES2009

Expression of ghrelin O-acyltransferase (GOAT), the newly-identified ghrelin acylation enzyme, in various human tissues

Lim CT , Kola B , Igreja S , Grossman AB , Korbonits M

Ghrelin is a circulating growth hormone-releasing and appetite-inducing brain–gut peptide. It needs to be acylated on its serine-3 with octanoate for its endocrine actions. The acyl-transferase that catalyses ghrelin octanoylation has been recently identified and named GOAT (ghrelin O-acyltransferase), which is coded by the MBOAT4 gene. This study aimed to investigate GOAT expression in human. The distribution of GOAT mRNA expression was studied in various human ti...

ea0021p302 | Pituitary | SFEBES2009

The effect of the familial pituitary adenoma gene AIP on apoptosis

Tahir Asil , Korbonits Marta , Grossman Ashley B , Chahal Harvinder S , Igreja Susana , Leontiou Chrysanthia A

Background: Pituitary adenomas usually occur as sporadic tumours, but familial cases are increasingly identified. Patients of 15–40% with familial-isolated-pituitary-adenoma (FIPA) harbour germline mutations in the aryl-hydrocarbon receptor interacting gene (AIP). AIP is thought to act as a tumour suppressor gene, with loss of heterozygosity shown in pituitary tumour samples at the 11q13 locus, where AIP is located. Previously we have shown AIP has properties consistent w...

ea0019p186 | Endocrine tumours and neoplasia | SFEBES2009

Extracellular signal-regulated kinase pathway is over-activated in pituitary adenomas

Wlodek E , Dworakowska D , Leontiou C , Igreja S , Goth M , Korbonits M , Grossman A

Background: Extracellular signal-regulated kinase (ERK) cascades are key signaling pathways involved in regulation of normal cell proliferation, survival and differentiation. Abberrant regulation of the ERK pathway contributes to tumourigenesis. The ERK signalling cascade partially controls transcription of the cell cycle regulator cyclin D1 and also expression and protein stability of the c-Myc proto-oncogene.Methods: Western Blotting was used to invest...

ea0019oc40 | Thyroid, reproduction and endocrine tumours | SFEBES2009

The clinical and genetic characteristics of patients with familial isolated pituitary adenoma

Chahal H , Igreja S , Gueorguiev M , Quinton R , Wass J , Popovic V , Ribeiro-Oliveira A Jr , Monson J , Akker S , Gallego P , Orme S , Goldstone A , Bevan J , Cheetam T , Davis J , Clayton R , Flanagan D , Frohman L , Grossman A , Korbonits M

Background: Familial pituitary adenomas can occur in the classic syndromes of MEN-1 and Carney complex. Recently an autosomal dominant disease with incomplete penetrance has been described as ‘familial-isolated-pituitary-adenoma’ (FIPA). Previous studies of familial acromegaly and gigantism disclosed germline mutations in the AIP gene located in the previously suspected chromosome 11q13 region.Aims: To analyse the prevalence of AIP-mutations in...