Abstract #1003872: Maturity Onset Diabetes of the Young Misdiagnosed as Type 2 Diabetes Mellitus

2021 ◽  
Vol 27 (6) ◽  
pp. S54-S55
Author(s):  
Deekchha Uprety ◽  
Jodie A. Reider
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes

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

scholarly journals Metabolomics Identifies Novel Hnf1α-Dependent Physiological Pathways in Vivo

2010 ◽  
Vol 24 (12) ◽  
pp. 2343-2355 ◽  
Author(s):  
Jessica A. Bonzo ◽  
Andrew D. Patterson ◽  
Kristopher W. Krausz ◽  
Frank J. Gonzalez
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Null Mouse ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes ◽  
Insulin Dependent ◽  
Type 3 ◽  
Dependent Type

Abstract Mutations in the HNF1A gene cause maturity-onset diabetes of the young type 3, one of the most common genetic causes of non-insulin-dependent (type 2) diabetes mellitus. Although the whole-body Hnf1a-null mouse recapitulates the low insulin levels and high blood glucose observed in human maturity-onset diabetes of the young type 3 patients, these mice also suffer from Laron dwarfism and aminoaciduria, suggesting a role for hepatocyte nuclear factor 1α (Hnf1α) in pathophysiologies distinct from non-insulin-dependent (type 2) diabetes mellitus. In an effort to identify pathways associated with inactivation of Hnf1α, an ultraperformance liquid chromatography coupled to mass spectrometry-based metabolomics study was conducted on urine samples from wild-type and Hnf1a-null mice. An increase in phenylalanine metabolites is in agreement with the known regulation of the phenylalanine hydroxylase gene by Hnf1α. This metabolomic approach also identified urinary biomarkers for three tissue-specific dysfunctions previously unassociated with Hnf1α function. 1) Elevated indolelactate coupled to decreased xanthurenic acid also indicated defects in the indole and kynurenine pathways of tryptophan metabolism, respectively. 2) An increase in the neutral amino acid proline in the urine of Hnf1a-null mice correlated with loss of renal apical membrane transporters of the Slc6a family. 3) Further investigation into the mechanism of aldosterone increase revealed an overactive adrenal gland in Hnf1a-null mice possibly due to inhibition of negative feedback regulation. Although the phenotype of the Hnf1a-null mouse is complex, metabolomics has opened the door to investigation of several physiological systems in which Hnf1α may be a critical regulatory component.

Clinical features, lifestyle management, and glycaemic targets in type 2 diabetes mellitus

2011 ◽  
pp. 1774-1779
Author(s):  
David Matthews ◽  
Usha Ayyagari ◽  
Pamela Dyson
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Urban Communities ◽  
Insulin Dependent Diabetes Mellitus ◽  
Dependent Diabetes Mellitus ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes ◽  
The Usa ◽  
High Level

Type 2 diabetes—previously named ‘maturity-onset diabetes’ or ‘non-insulin-dependent diabetes mellitus’—was, in the past, generally diagnosed in individuals over the age of 40 years old, but, with the modern epidemic, is found in increasing numbers in younger people, including teenagers and children. It is strongly associated with overweight and obese individuals, and tends to run in families. This feature may be environmental, since being overweight also runs in families, but there are specific genes for obesity (1). Type 2 diabetes that occurs in younger individuals with a very strong family history of early-onset diabetes may be the autosomally dominant ‘maturity-onset diabetes of the young’ (MODY) (see Chapter 13.3.4). In an environment where there is a pandemic of diabetes, one should maintain a very high level of suspicion of diabetes in those who are overweight—in the USA, the prevalence of type 2 diabetes is running at 8% of the population, and, in South India and Sri Lanka, at up to 18% in urban communities (2).

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.

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