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Endocrine Abstracts (2014) 34 S9.2 | DOI: 10.1530/endoabs.34.S9.2

University of Oxford, Oxford, UK.


Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the occurrence of parathyroid, pancreatic islet, and anterior pituitary tumours. In addition, some patients may also develop adrenal cortical tumours, carcinoid, facial angiofibromas, collagenomas, and lipomatous tumours. The gene causing MEN1 is located on chromosome 11q13, and encodes a 610 amino-acid protein, menin, that represents a tumour suppressor, as its loss of expression is associated with the development of MEN1-associated tumours. In vitro studies have shown that menin has functions in cell division, genome stability and transcription regulation. In addition, menin acts as a scaffold protein and may increase or decrease gene expression by epigenetic regulation via histone methylation. In vivo mouse models for MEN1, established by using conventional and conditional knock-out methods, develop MEN1-associated tumours, and have been useful for translational studies. For example, one study has reported that MEN1-gene replacement therapy can reduce proliferation rates in anterior pituitary tumours. In conclusion, elucidation of the genetic defect causing MEN1 has helped to understand the pathophysiology of this disorder as well as establishing pre-clinical model for translational studies.

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