Should the Negativity for Islet Cell Autoantibodies Be Used in a Prescreening for Genetic Testing in Maturity-Onset Diabetes of the Young? The Case of Autoimmunity-Associated Destruction of Pancreatic β-Cells in a Family of HNF1A-MODY Subjects

2013 ◽  
Vol 161 (3) ◽  
pp. 279-284 ◽  
Author(s):  
Jana Urbanová ◽  
Blanka Rypáčková ◽  
Petr Kučera ◽  
Michal Anděl ◽  
Petr Heneberg
Keyword(s):  
Genetic Testing ◽  
Islet Cell ◽  
Maturity Onset Diabetes ◽  
Β Cells ◽  
Pancreatic Β Cells ◽  
Onset Diabetes ◽  
Islet Cell Autoantibodies

Clinical and Genetic Features of Maturity-onset Diabetes of the Young in Pediatric Patients: a 12-year Monocentric Experience

2021 ◽  
Author(s):  
Stefano Passanisi ◽  
Giuseppina Salzano ◽  
Bruno Bombaci ◽  
Fortunato Lombardo
Keyword(s):  
Genetic Testing ◽  
Paediatric Population ◽  
Maturity Onset Diabetes ◽  
C Peptide ◽  
Onset Diabetes ◽  
Appropriate Treatment ◽  
Genetic Features ◽  
The Mean ◽  
Prompt Diagnosis ◽  
Diagnostic Investigations

Abstract Background. A retrospective observational study was conducted to assess the prevalence of maturity onset diabetes of the young (MODY) in a large paediatric population of Southern Italy. Clinical and genetic features of the identified MODY patients were also described. Methods. Genetic testing was performed in children and adolescents newly diagnosed with diabetes who presented autoantibody negativity and fasting C-peptide levels ≥ 0.8 ng/mL. Patients with a low insulin daily dose and optimal glycaemic control after two years from diabetes onset were also investigated for monogenic diabetes, regardless of their autoimmunity status and/or C-peptide levels.Results. A prevalence of 6.5% of MODY was found. In particular, glucokinase-MODY was the most common type of MODY. The mean age at diagnosis was 9.1 years. Clinical presentation and biochemical data were heterogeneous also among patients belonging to the same MODY group. No clear criteria to screen patients eligible for diagnostic investigations were identified. Conclusions. Our findings highlight that a more detailed clinical evaluation of patients diagnosed with diabetes along with easier and less expensive approachability to genetic testing may allow diagnosing an increasing number of MODY cases. A correct, prompt diagnosis is crucial to choose the most appropriate treatment and offer adequate genetic counselling.

Co-inheritance ofHNF1aandGCKmutations in a family with maturity-onset diabetes of the young (MODY): implications for genetic testing

2013 ◽  
Vol 79 (3) ◽  
pp. 342-347 ◽  
Author(s):  
M. P. López-Garrido ◽  
S. Herranz-Antolín ◽  
M. J. Alija-Merillas ◽  
P. Giralt ◽  
J. Escribano
Keyword(s):  
Genetic Testing ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes

MODY in Ukraine: genes, clinical phenotypes and treatment

2017 ◽  
Vol 30 (10) ◽  
Author(s):  
Evgenia Globa ◽  
Nataliya Zelinska ◽  
Lenka Elblova ◽  
Petra Dusatkova ◽  
Ondrej Cinek ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Family Members ◽  
Genetic Diagnosis ◽  
Maturity Onset Diabetes ◽  
Genetic Etiology ◽  
Clinical Phenotypes ◽  
Onset Diabetes ◽  
Patients With Diabetes ◽  
Made In

AbstractBackground:Maturity-onset diabetes of the young (MODY) has not been previously studied in Ukraine. We investigated the genetic etiology in a selected cohort of patients with diabetes diagnosed before 18 years of age, and in their family members.Methods:Genetic testing of the most prevalent MODY genes (Results:A genetic diagnosis of MODY was made in 15/39 affected individuals from 12/36 families (33%).Conclusions:Genetic testing identified pathogenic

scholarly journals A Novel Resolution of Diabetes: C-C Chemokine Motif Ligand 4 Is a Common Target in Different Types of Diabetes by Protecting Pancreatic Islet Cell and Modulating Inflammation

2021 ◽  
Vol 12 ◽  
Author(s):  
Ting-Ting Chang ◽  
Liang-Yu Lin ◽  
Jaw-Wen Chen
Keyword(s):  
Insulin Resistance ◽  
Blood Sugar ◽  
Islet Cell ◽  
Diabetic Mice ◽  
Β Cells ◽  
Pancreatic Β Cells ◽  
Type 2 Dm ◽  
Tnf Α

Systemic inflammation is related to hyperglycemia in diabetes mellitus (DM). C-C chemokine motif ligand (CCL) 4 is upregulated in type 1 & type 2 DM patients. This study aimed to investigate if CCL4 could be a potential target to improve blood sugar control in different experimental DM models. Streptozotocin-induced diabetic mice, Leprdb/JNarl diabetic mice, and C57BL/6 mice fed a high fat diet were used as the type 1 DM, type 2 DM, and metabolic syndrome model individually. Mice were randomly assigned to receive an anti-CCL4 neutralizing monoclonal antibody. The pancreatic β-cells were treated with streptozotocin for in vitro experiments. In streptozotocin-induced diabetic mice, inhibition of CCL4 controlled blood sugar, increased serum insulin levels, increased islet cell proliferation and decreased pancreatic interleukin (IL)-6 expression. In the type 2 diabetes and metabolic syndrome models, CCL4 inhibition retarded the progression of hyperglycemia, reduced serum tumor necrosis factor (TNF)-α and IL-6 levels, and improved insulin resistance via reducing the phosphorylation of insulin receptor substrate-1 in skeletal muscle and liver tissues. CCL4 inhibition directly protected pancreatic β-cells from streptozotocin stimulation. Furthermore, CCL4-induced IL-6 and TNF-α expressions could be abolished by siRNA of CCR2/CCR5. In summary, direct inhibition of CCL4 protected pancreatic islet cells, improved insulin resistance and retarded the progression of hyperglycemia in different experimental models, suggesting the critical role of CCL4-related inflammation in the progression of DM. Future experiments may investigate if CCL4 could be a potential target for blood sugar control in clinical DM.

scholarly journals Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes?

2018 ◽  
Vol 20 (2) ◽  
pp. 106-112 ◽  
Author(s):  
Shideh Majidi ◽  
Alexandra Fouts ◽  
Laura Pyle ◽  
Christina Chambers ◽  
Taylor Armstrong ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes
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