Function of HNF1 in the pathogenesis of diabetes

Authors: Rhoads, David B; Levitsky, Lynne L

Source: Expert Review of Endocrinology and Metabolism, Volume 3, Number 3, May 2008 , pp. 391-403(13)

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Abstract:

The importance of hepatocyte nuclear factors (HNFs), as well as other transcription factors in β-cell development and function, was underlined by the characterization of human mutations causing maturity-onset diabetes of the young (MODY). HNF1A and HNF1B mutations lead to MODY forms 3 and 5, respectively. Thus, transcriptional control is an essential mechanism underlying the precise metabolic control exerted by β-cells in regulating insulin release. The diabetes phenotype of MODY3 (HNF1α) and the phenotypes of MODY5 (HNF1β), which can also include renal disease and genitourinary malformations, as well as neonatal diabetes and pancreatic agenesis, have now been described. However, detailed molecular pathology remains elusive. The large array of dominant-negative and deletion mutations, and the lack of structure-phenotype relationships for most mutations, have not helped us to formulate a mechanistic understanding. Further molecular studies of HNF1 actions and gene regulation are anticipated to provide useful insights into β-cell biology and potential therapeutic tools.

Keywords: maturity-onset diabetes of the young; MODY; mutation; phenotype; protein structure; tertiary; transcription factor

Document Type: Research article

DOI: http://dx.doi.org/10.1586/17446651.3.3.391

Affiliations: 1: Director, Pediatric Endocrine Research Laboratory, MassGeneral Hospital for Children, 55 Fruit Street - BHX410, Boston, MA 02114-2696, USA., Email: rhoads@helix.mgh.harvard.edu

Publication date: 2008-05-01

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Expert Review of Endocrinology & Metabolism provides extensive coverage of state-of-the-art research and clinical advancements in the field of endocrine control and metabolism, with a focus on screening, prevention, diagnostics, existing and novel therapeutics, as well as related molecular genetics, pathophysiology and epidemiology
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Function of HNF1 in the pathogenesis of diabetes

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