Missense Mutations in the Human Insulin Promoter Factor-1 Gene and Their Relation to Maturity-Onset Diabetes of the Young and Late-Onset Type 2 Diabetes Mellitus in Caucasians

2000 ◽  
Vol 85 (3) ◽  
pp. 1323-1326 ◽  
Author(s):  
L. Hansen
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Human Insulin ◽  
Late Onset ◽  
Missense Mutations ◽  
Maturity Onset Diabetes ◽  
Onset Type ◽  
Insulin Promoter

scholarly journals Missense Mutations in the Human Insulin Promoter Factor-1 Gene and Their Relation to Maturity-Onset Diabetes of the Young and Late-Onset Type 2 Diabetes Mellitus in Caucasians*

2000 ◽  
Vol 85 (3) ◽  
pp. 1323-1326
Author(s):  
Lars Hansen ◽  
Sandra Urioste ◽  
Helle V. Petersen ◽  
Jan N. Jensen ◽  
Hans Eiberg ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Transcription Factors ◽  
Genetic Basis ◽  
Late Onset ◽  
Maturity Onset Diabetes ◽  
Onset Type ◽  
Insulin Promoter

Abstract Increasing evidence suggests that defects in genes encoding transcription factors that are expressed in the pancreatic β-cells may be important contributors to the genetic basis of type 2 diabetes mellitus. Maturity-onset diabetes of the young (MODY) now exists in five subtypes (MODY1–5), four of which are caused by mutations in transcription factors hepatocyte nuclear factor-4α (HNF-4α), HNF-1α, insulin promoter factor-1 (IPF-1), and HNF-1β (MODY1, -3, -4, and -5). Recent evidence from the British population even suggested that IPF-1 may be a predisposing gene for type 2 diabetes. Thus, highlighting the potential role of this transcription factor in the genetic basis of Danish and Italian MODY as well as in Danish patients with late-onset type 2 diabetes mellitus, we have examined the human IPF-1 gene for mutations by single strand conformation polymorphism and heteroduplex analysis in 200 Danish patients with late-onset type 2 diabetes and in 44 Danish and Italian MODY patients. In the patients with late-onset type 2 diabetes we identified a noncoding G insertion/deletion polymorphism at nucleotide −108, a silent G54G, and a rare missense D76N variant. Moreover, a Danish MODY patient was carrier of an A140T variant. Neither the D76N nor the A140T segregated with diabetes, and their transcriptional activation of the human insulin promoter expressed in vitro was indistinguishable from that of the wild type (115 ± 21% and 84 ± 12% vs. 100%). We conclude that variants in IPF-1 are not a common cause of MODY or late-onset type 2 diabetes in the Caucasian population, and that in terms of insulin transcription both the N76 and the T140 mutations are likely to represent functionally normal IPF-1 variants with no direct role in the pathogenesis of MODY or late-onset type 2 diabetes mellitus.

scholarly journals Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus

1999 ◽  
Vol 104 (9) ◽  
pp. R41-R48 ◽  
Author(s):  
El Habib Hani ◽  
Doris A. Stoffers ◽  
Jean-Claude Chèvre ◽  
Emmanuelle Durand ◽  
Violeta Stanojevic ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Late Onset ◽  
Onset Type ◽  
Insulin Promoter

Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus

2009 ◽  
Vol 70 (6) ◽  
pp. 847-853 ◽  
Author(s):  
Nattachet Plengvidhya ◽  
Watip Boonyasrisawat ◽  
Nalinee Chongjaroen ◽  
Prapaporn Jungtrakoon ◽  
Sutin Sriussadaporn ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Early Onset ◽  
Maturity Onset Diabetes ◽  
Onset Type ◽  
Onset Diabetes

Mitochondrial DNA A3243G mutation in patients with early- or late-onset type 2 diabetes mellitus in Hong Kong Chinese

2000 ◽  
Vol 52 (5) ◽  
pp. 557-564 ◽  
Author(s):  
M. C. Y. Ng ◽  
V. T. F. Yeung ◽  
C. C. Chow ◽  
J. K. Y. Li ◽  
P. R. Smith ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Mitochondrial Dna ◽  
Hong Kong ◽  
Late Onset ◽  
Hong Kong Chinese ◽  
Onset Type ◽  
A3243g Mutation
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