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ea0070aep281 | Diabetes, Obesity, Metabolism and Nutrition | ECE2020

The MAFA gene mutation responsible for familial insulinomatosis and diabetes impairs insulin secretion and results in downregulation of critical cell cycle regulators

Iacovazzo Donato , Thong Lim Chung , Quezado Rosana , Drummond Juliana , Antonio de Sousa Barros Fernando , Cuenco Joyceline , Brändle Michael , Walker Emily , Guo Min , Collier David , Khan Faraz , Wang Jun , Tan Tricia , Ellard Sian , Stein Roland , Korbonits Marta

The islet-enriched transcription factor MAFA regulates the expression of genes critical to beta cell function and insulin secretion. We previously described anovel MAFA mutation (c.191C > T, p.S64F) causing familial insulinomatosis and diabetes mellitus, with male carriers more often developing diabetes and females more prone to insulinomatosis. The exact molecular mechanisms underlying these phenotypes are unclear. In this study, we assessed glucose metabolism an...

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ea0044oc1.5 | Early Career Oral Communications | SFEBES2016

A missense mutation in the islet-enriched transcription factor MAFA leads to familial insulinomatosis and diabetes

Iacovazzo Donato , Flanagan Sarah E. , Walker Emily , Caswell Richard , Brandle Michael , Johnson Matthew , Wakeling Matthew , Guo Min , Dang Mary N. , Gabrovska Plamena , Niederle Bruno , Christ Emanuel , Jenni Stefan , Sipos Bence , Nieser Maike , Frilling Andrea , Dhatariya Ketan , Chanson Philippe , de Herder Wouter , Konukiewitz Bjorn , Kloppel Gunter , Stein Roland , Ellard Sian , Korbonits Marta

Introduction: Insulinomatosis is a rare disorder characterised by persistent hyperinsulinaemic hypoglycaemia (PHH) due to the occurrence of multifocal pancreatic insulinomas. This condition, whose pathogenesis is unknown, can occur in a familial setting. Paradoxically, while some family members develop PHH, others develop diabetes mellitus.Methods: We have identified a family with autosomal dominant familial insulinomatosis and diabetes. Exome sequencing...

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Endocrine Abstracts

The MAFA gene mutation responsible for familial insulinomatosis and diabetes impairs insulin secretion and results in downregulation of critical cell cycle regulators

A missense mutation in the islet-enriched transcription factor MAFA leads to familial insulinomatosis and diabetes

BiosciAbstracts