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Klinisk institutt 1
Midtveisevaluering

Midtveisevaluering - Anny Gravdal

Midtveisevaluering for ph.d.-graden ved Universitetet i Bergen for kandidat Anny Gravdal

Anny Gravdal er tilknyttet Klinisk institutt 1. Veiledere er Karianne Fjeld, Anders Molven, Bente Berg Johansson og Pål Rasmus Njølstad.

Prosjekt

Role of Carboxyl ester lipase (CEL) in pancreatic disease: Functional characterization of pathogenic CEL variants and a new mouse model for chronic pancreatitis

Abstract

Pancreatitis and diabetes are two major diseases of the pancreas. Two pathogenic variants of thedigestive enzyme carboxyl ester lipase (CEL), namely CEL-MODY and CEL-HYB, have been shown to beinvolved in these disorders. Both disease-causing variants result in a CEL protein variant withtruncated and altered C-terminal sequences. Cellular studies of CEL-MODY and CEL-HYB indicateprotein misfolding and aggregation as part of the disease process; however, the exact molecularmechanisms are still largely unknown. Thus, the aim of my thesis is to increase our knowledge abouthow CEL variants predispose to pancreatic disease. I am studying this fascinating enzyme by usingcell model systems as well as patient material and transgenic animal models.