Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus

N VionnetP Passa


Maturity-onset diabetes of the young (MODY) is a form of non-insulin-dependent (type 2) diabetes mellitus (NIDDM) which is characterized by an early age at onset and an autosomal dominant mode of inheritance. Except for these features, the clinical characteristics of patients with MODY are similar to those with the more common late-onset form(s) of NIDDM. Previously we observed tight linkage between DNA polymorphisms in the glucokinase gene on the short arm of chromosome 7 and NIDDM in a cohort of sixteen French families having MODY. Glucokinase is an enzyme that catalyses the formation of glucose-6-phosphate from glucose and may be involved in the regulation of insulin secretion and integration of hepatic intermediary metabolism. Because the glucokinase gene was a candidate for the site of the genetic lesion in these families, we scanned this gene for mutations. Here we report the identification of a nonsense mutation in the gene encoding glucokinase and its linkage with early-onset diabetes in one family. To our knowledge, this result is the first evidence implicating a mutation in a gene involved in glucose metabolism in the pathogenesis of NIDDM.


Feb 1, 1976·The Biochemical Journal·M J HolroydeD G Walker
Feb 15, 1991·Proceedings of the National Academy of Sciences of the United States of America·G I BellN J Cox
Apr 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·M OritaT Sekiya
Nov 1, 1989·Diabetes/metabolism Reviews·S S Fajans
Jan 1, 1984·The American Journal of Physiology·R Takemura, Z Werb

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Dec 1, 1994·Diabetes/metabolism Reviews·P Valsania, P Micossi
Jun 26, 2001·Diabetes/metabolism Research and Reviews·Y YamadaY Seino
Jan 1, 1994·Journal of Cellular Biochemistry·J D McGarry
Feb 1, 1995·Mammalian Genome : Official Journal of the International Mammalian Genome Society·K K Lueders
May 1, 1993·Pflügers Archiv : European journal of physiology·B A WilliamsF M Ashcroft
Apr 1, 1996·Diabetologia·J A Maassen, T Kadowaki
Apr 1, 1994·Diabetologia·J C AlcoladoA H Barnett
Mar 1, 1996·Diabetologia·R W TaylorM Walker
Nov 17, 2011·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Sina A GharibDavid Gozal
May 22, 2007·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Nan JiangJohn M Hancock
May 22, 2007·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Peter L OliverKay E Davies
Jun 30, 2011·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Fiona McMurray, Roger D Cox
Nov 26, 2010·Human Genetics·Yunfeng ShenJianping Weng
Apr 12, 2007·Current Diabetes Reports·Michael N Weedon, Timothy M Frayling
Jan 1, 1994·Life Sciences·S S FajansK S Polonsky
May 30, 1992·Lancet·A T HattersleyJ S Wainscoat
Feb 6, 1993·Lancet·P Froguel, G Velho
Apr 10, 1993·Lancet·H KatagiriY Oka
Apr 27, 1984·Biochimica Et Biophysica Acta·E IchishimaH Sakata

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