scholarly journals Evolution- and Structure-Based Computational Strategy Reveals the Impact of Deleterious Missense Mutations on MODY 2 (Maturity-Onset Diabetes of the Young, Type 2)

Theranostics ◽  
2014 ◽  
Vol 4 (4) ◽  
pp. 366-385 ◽  
Author(s):  
Doss C. Priya George ◽  
Chiranjib Chakraborty ◽  
SA Syed Haneef ◽  
Nagarajan NagaSundaram ◽  
Luonan Chen ◽  
...  
Keyword(s):  
Missense Mutations ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes ◽  
The Impact ◽  
Computational Strategy

Phenotypic and pathomorphological characteristics of a novel mutant mouse model for maturity-onset diabetes of the young type 2 (MODY 2)

2010 ◽  
Vol 298 (3) ◽  
pp. E512-E523 ◽  
Author(s):  
L. van Bürck ◽  
A. Blutke ◽  
S. Kautz ◽  
B. Rathkolb ◽  
M. Klaften ◽  
...  
Keyword(s):  
Mutant Mouse ◽  
Cell Mass ◽  
Mutant Mice ◽  
Maturity Onset Diabetes ◽  
Β Cell ◽  
Onset Diabetes ◽  
Homozygous Mutant ◽  
The Impact ◽  
Cell Volumes

Several mutant mouse models for human diseases such as diabetes mellitus have been generated in the large-scale Munich ENU ( N-ethyl- N-nitrosourea) mouse mutagenesis project. The aim of this study was to identify the causal mutation of one of these strains and to characterize the resulting diabetic phenotype. Mutants exhibit a T to G transversion mutation at nt 629 in the glucokinase ( Gck) gene, leading to an amino acid exchange from methionine to arginine at position 210. Adult Munich GckM210R mutant mice demonstrated a significant reduction of hepatic glucokinase enzyme activity but equal glucokinase mRNA and protein abundances. While homozygous mutant mice exhibited growth retardation and died soon after birth in consequence of severe hyperglycemia, heterozygous mutant mice displayed only slightly elevated blood glucose levels, present from birth, with development of disturbed glucose tolerance and glucose-induced insulin secretion. Additionally, insulin sensitivity and fasting serum insulin levels were slightly reduced in male mutant mice from an age of 90 days onward. While β-cell mass was unaltered in neonate heterozygous and homozygous mutant mice, the total islet and β-cell volumes and the total volume of isolated β-cells were significantly decreased in 210-day-old male, but not female heterozygous mutant mice despite undetectable apoptosis. These findings indicate that reduced total islet and β-cell volumes of male mutants might emerge from disturbed postnatal islet neogenesis. Considering the lack of knowledge about the pathomorphology of maturity-onset diabetes of the young type 2 (MODY 2), this glucokinase mutant model of reduced total islet and total β-cell volume provides the opportunity to elucidate the impact of a defective glucokinase on development and maintenance of β-cell mass and its relevance in MODY 2 patients.

scholarly journals Childhood obesity complicating the differential diagnosis of maturity-onset diabetes of the young and type 2 diabetes

2007 ◽  
Vol 0 (0) ◽  
pp. 071127170524002-??? ◽  
Author(s):  
Naomi Weintrob ◽  
Eti Stern ◽  
Yaffa Klipper-Aurbach ◽  
Moshe Phillip ◽  
Galia Gat-Yablonski
Keyword(s):  
Type 2 Diabetes ◽  
Differential Diagnosis ◽  
Childhood Obesity ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes

Common Variants in Maturity-Onset Diabetes of the Young Genes and Future Risk of Type 2 Diabetes

Diabetes ◽  
2008 ◽  
Vol 57 (6) ◽  
pp. 1738-1744 ◽  
Author(s):  
J. Holmkvist ◽  
P. Almgren ◽  
V. Lyssenko ◽  
C. M. Lindgren ◽  
K.-F. Eriksson ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Maturity Onset Diabetes ◽  
Common Variants ◽  
Onset Diabetes ◽  
Future Risk

Maturity-Onset Diabetes of the Young (MODY): Genetic Causes, Clinical Characteristics, Considerations for Testing, and Treatment Options

Endocrines ◽  
2021 ◽  
Vol 2 (4) ◽  
pp. 485-501
Author(s):  
Zoltan Antal
Keyword(s):  
Clinical Presentation ◽  
Clinical Symptoms ◽  
Treatment Options ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes ◽  
Inappropriate Treatment ◽  
Monogenic Forms Of Diabetes ◽  
Initial Description

Maturity Onset Diabetes of the Young (MODY) encompasses a group of rare monogenic forms of diabetes distinct in etiology and clinical presentation from the more common forms of Type 1 (autoimmune) and Type 2 diabetes. Since its initial description as a clinical entity nearly 50 years ago, the underlying genetic basis for the various forms of MODY has been increasingly better elucidated. Clinically, the diagnosis may be made in childhood or young adulthood and can present as overt hyperglycemia requiring insulin therapy or as a subtle form of slowly progressive glucose impairment. Due to the heterogeneity of clinical symptoms, patients with MODY may be misdiagnosed as possessing another form of diabetes, resulting in potentially inappropriate treatment and delays in screening of affected family members and associated comorbidities. In this review, we highlight the various known genetic mutations associated with MODY, clinical presentation, indications for testing, and the treatment options available.

Functional characterization of two novel splicing mutations of glucokinase gene associated with maturity-onset diabetes of the young type 2 (MODY2)

2014 ◽  
Vol 48 (2) ◽  
pp. 248-253 ◽  
Author(s):  
E. L. Igudin ◽  
P. V. Spirin ◽  
V. S. Prasolov ◽  
N. A. Zubkova ◽  
E. E. Petryaikina ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Maturity Onset Diabetes ◽  
Glucokinase Gene ◽  
Splicing Mutations ◽  
Onset Diabetes

Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing

2016 ◽  
Vol 29 (4) ◽  
Author(s):  
Sebahat Yılmaz Ağladıoğlu ◽  
Zehra Aycan ◽  
Semra Çetinkaya ◽  
Veysel Nijat Baş ◽  
Aşan Önder ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Next Generation Sequencing ◽  
Point Mutations ◽  
Maturity Onset Diabetes ◽  
Turkish Children ◽  
Onset Diabetes ◽  
Molecular Studies ◽  
Generation Sequencing

AbstractMaturity-onset diabetes of the youth (MODY), is a genetically and clinically heterogeneous group of diseasesand is often misdiagnosed as type 1 or type 2 diabetes. The aim of this study is to investigate both novel and proven mutations of 11A panel of 11We identified 28 (65%) point mutations among 43 patients. Eighteen patients haveThis is the first study including molecular studies of 11

Characterization of glucokinase mutations associated with maturity-onset diabetes of the young type 2 (MODY-2): different glucokinase defects lead to a common phenotype

Diabetes ◽  
1999 ◽  
Vol 48 (8) ◽  
pp. 1645-1651 ◽  
Author(s):  
S. P. Miller ◽  
G. R. Anand ◽  
E. J. Karschnia ◽  
G. I. Bell ◽  
D. C. LaPorte ◽  
...  
Keyword(s):  
Maturity Onset Diabetes ◽  
Common Phenotype ◽  
Onset Diabetes ◽  
Glucokinase Mutations

Molecular and phenotypic characteristics of maturity-onset diabetes of the young compared with early onset type 2 diabetes in China

2015 ◽  
Vol 7 (6) ◽  
pp. 858-863 ◽  
Author(s):  
Manna Zhang ◽  
Jiao Jiao Zhou ◽  
Wenjie Cui ◽  
Yan Li ◽  
Peng Yang ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Early Onset ◽  
Maturity Onset Diabetes ◽  
Phenotypic Characteristics ◽  
Onset Type ◽  
Onset Diabetes

Autoimmune Thyroid Diseases in Children and Adolescents with Maturity Onset Diabetes of the Young Type 2

2019 ◽  
Vol 92 (1) ◽  
pp. 52-55 ◽  
Author(s):  
Valeria Calcaterra ◽  
Corrado Regalbuto ◽  
Giulia Dobbiani ◽  
Chiara Montalbano ◽  
Federica Vinci ◽  
...  
Keyword(s):  
Children And Adolescents ◽  
Thyroid Diseases ◽  
Maturity Onset Diabetes ◽  
Autoimmune Thyroid Diseases ◽  
Autoimmune Thyroid ◽  
Onset Diabetes
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