Glucokinase gene mutation screening in Argentinean clinically characterized MODY

LOPEZ AP; FOSCALDI SA; PEREZ MS; KROCHIK G; RODRIGUEZ M; TRAVERSA M; PUCHULU FM; HIRSCHLER V; BERGADA IGNACIO; FRECHTEL GD

EXPERIMENTAL CLINICAL ENDOCRINOLOGY & DIABETES

JOHANN AMBROSIUS BARTH VERLAG MEDIZINVERLAGE HEIDELBERG GMBH

Lugar: Heidelberg ; Año: 2009 vol. 117 p. 391 - 394

0947-7349

INTRODUCTION: Mutations in the glucokinase gene (GCK) produce a subtype ofMaturity onset diabetes in the young (MODY), named MODY 2. To date over than 190 different mutations have been identified, distributed over the coding regions andthe exon-intron boundaries of the gene. The aim of this work was to study thenature and frequency of mutations in the GCK gene, in a MODY clinicallycharacterized Argentinean population. MATERIAL AND METHODS: Seventy unrelatedindividuals were selected based on MODY clinical features. The study methodology consisted in PCR amplification of the coding regions of the GCK gene, SSCPelectrophoresis analysis of the amplified fragments and direct sequencing of the fragments with abnormal electrophoresis pattern. RESULTS: We identified a totalof six patients with mutations in the GCK gene. This included two novelmutations: g.1831C>A, g.3792T>A, one already reported by our group, g.168fsdelC(same mutation in two non-related patients) and two already reported: p.Gln138Proand p.Gly261Glu. With that data, we could establish the prevalence of MODY 2among the patients in study reaching to 8.6%. DISCUSSION: The main contributionof this study is to inform about two novel mutations not described to date and tomake an approach to the establishment of the prevalence of MODY 2 in thepopulation under study. These findings contribute to confirm the allelicheterogeneity of GCK gene mutations and may provide an insight into thestructure-function relationship of the GCK.