ECE2013 Poster Presentations Diabetes (151 abstracts)
Clinical experience of a monogenic diabetes unit during 2008–2012 in the Department of Endocrinology and Nutrition (Malaga, Spain)
Marta Domínguez-López , J David Fernández-Arias , INmaculada González-Molero , Sergio Valdés , Juan Miguel Gómez-Zumaquero , Mercedes Guerrero , Natalia Colomo , Antonio Omiste , David Palau , Maria Soledad Ruiz de Adana & Federico Soriguer Escofet
Carlos Haya Hospital, Malaga, Spain.
Objectives: MODY diabetes is the most common form of monogenic diabetes, encompassing a heterogeneous group of disorders whose primary defect results from mutations in one of at least seven genes recognized, associated with a primary defect in insulin secretion. It has early onset and autosomal dominant inheritance.
Our objective was to evaluate the results of monogenic diabetes clinic of the Endocrinology and Nutrition Department during 2008–2012.
Methods: After evaluating 103 patients referred to the unit for genotyping, only 75 individuals (from 46 families) were included (34 men and 41 women) using the clinical criteria for the diagnosis of monogenic diabetes as ‘Best practice guidelines for the molecular genetic diagnosis of MODY’ (Ellard S et al. Diabetologia 2008). HNF1A was sequenced in 15 patients (20%), HNF1A/HNF4A in 9 patients (12%), GCK in 38 patients (50.6%), HNF1A/HNF4A/GCK (16%) in 12 patients and HNF1A/HNF4A/GCK/HNF1B in one patient. (1.3%).
DNA extraction was performed from peripheral blood by kit ‘MaxwellÒ 16 DNA Purification Kits’ (Promega Corporation).
Amplification was performed using 18 pairs of specific primers covering the entire gene GKC and HNF1alfa, and 23 pairs of primers for the gene HNF3A.
The amplification were sequenced in both directions of the PCR products using the ABI automated sequencer from Applied Biosystems 3130.
Subsequent study of the sequences was performed by applying SeqScape Applied Biosystem v2.0 and check Human Gene Mutation Datebase.
Results: Mutations were found in 6 patients HNF1A of 3 families (L12F, A174V, R200W) in 22 patients GCK of 9 families (R191W, G227D, T206M, T209M, R43S, L45P, S453L) and in 3 subject HNF4A (T139I, R331 C) belonging to two families. In 24 subjects were found insulin-resistance polymorphism and 20 patients awaiting results.
Conclusions: The low frequency of mutations suggests the involvement of other genes, not identified in the etiology of MODY, not knowing the influence that could have the presence of genetic variants in other genes related to insulin action about its clinical expression.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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