scholarly journals Etiology and Epidemiology of Maturity-onset Diabetes of the Young

2021 ◽  
pp. 759-765
Author(s):  
Abdulwahid Mohammad Alghamdi ◽  
Zahra Yaser Alamer ◽  
Mohammed Abdulrahman Alamri ◽  
Ablaa Mubarak Alkorbi ◽  
Abdullah Ghunaim Almtotah ◽  
...  
Keyword(s):  
Type Ii Diabetes Mellitus ◽  
Serum Glucose ◽  
Extensive Literature ◽  
Maturity Onset Diabetes ◽  
Pancreatic Islet Cell ◽  
Glucose Levels ◽  
Onset Diabetes ◽  
Age Variations ◽  
Impaired Insulin ◽  
Epidemiological Characteristics

Evidence indicates that Maturity-onset diabetes of the young (MODY) exhibits an autosomal dominant inheritance and is the most common type of monogenic diabetes. However, it should be noted that misdiagnosis of the condition is very common, as patients are usually mistaken for both types I and type II diabetes mellitus. In the present study, we have discussed the etiology, pathogenesis, and epidemiology of MODY based on an extensive literature review. Genetic mutations are mainly attributed to the development of the disease, which usually manifests throughout the second to fifth decades of life. Pancreatic islet cell destruction, impaired insulin secretion, defects regarding threshold to serum glucose levels, and other pathological events are usually observed in these patients. Data regarding the epidemiology of the condition is not adequately reported in the literature, especially among non-European populations, indicating the need to conduct future investigations. Ethnic and age variations are potentially epidemiological characteristics of the disease. However, not enough data are present in the literature to support such conclusions.

Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families

2000 ◽  
pp. 380-386 ◽  
Author(s):  
A Costa ◽  
M Bescos ◽  
G Velho ◽  
J Chevre ◽  
J Vidal ◽  
...  
Keyword(s):  
Insulin Secretion ◽  
Insulin Sensitivity ◽  
Tolerance Test ◽  
Oral Glucose ◽  
Sequencing Analysis ◽  
Model Assessment ◽  
Maturity Onset Diabetes ◽  
Phenotypic Differences ◽  
Glucose Levels ◽  
Onset Diabetes

OBJECTIVE: To investigate the frequencies of the major maturity-onset diabetes of the young (MODY) subtypes in a panel of Spanish families and to assess phenotypic differences in patients with the different subtypes of MODY. METHODS: Forty-eight subjects from twenty families with clinical diagnosis of MODY were studied. They underwent a standardised clinical examination and a 75-g oral glucose tolerance test (OGTT) was performed. Estimations of insulin sensitivity (%S) and insulin secretion capacity (%B) were calculated by the computer-solved homeostasis model assessment (HOMA). Mutations in the coding regions of hepatocyte nuclear factor (HNF)-4alpha/MODY1, glucokinase (GCK/MODY2) and HNF-1alpha/MODY3 genes were investigated by single strand comformation polymorphism and sequencing analysis. RESULTS: Mutations in the GCK and HNF-1alpha genes were observed in 5 (25%) and 7 (35%) families respectively. Novel mutations included R385X, M238fsdelT, V226fsdelTinsAA and S418-7del11 in the GCK gene, and S121fsdelC, V133M, R159Q and V259D in the HNF-1alpha gene. No MODY1 families were found. Subjects which were neither MODY2 nor MODY3 (MODY-X) had a higher fasting glucose than subjects in the other groups. Insulin secretion capacity was similar in the three groups and the insulin sensitivity was decreased in MODY-X subjects. Glucose levels were significantly higher and insulin levels significantly lower, throughout the OGTT, in MODY3 compared with MODY2 subjects. CONCLUSIONS: Mutations in the GCK/MODY2 and HNF-1alpha/MODY3 genes account for the majority of cases in a panel of Spanish MODY families, with MODY3 being the most frequent subtype. The relative frequencies and the clinical characteristics of these MODY subtypes are in agreement with data previously reported in other European populations. MODY-X patients seem to present a heterogeneous clinical profile.

scholarly journals Structural instability of mutant β-cell glucokinase: implications for the molecular pathogenesis of maturity-onset diabetes of the young (type-2)

1997 ◽  
Vol 322 (1) ◽  
pp. 57-63 ◽  
Author(s):  
Prabakaran KESAVAN ◽  
Liqun WANG ◽  
Elizabeth DAVIS ◽  
Antonio CUESTA ◽  
Ian SWEET ◽  
...  
Keyword(s):  
Structural Instability ◽  
Pancreatic Β Cell ◽  
Maturity Onset Diabetes ◽  
Wild Type ◽  
Β Cell ◽  
Catalytic Function ◽  
Onset Diabetes ◽  
Impaired Insulin ◽  
Thermal Stability Of

The catalytic function and thermal stability of wild-type and mutant recombinant human pancreatic β-cell glucokinase was investigated. The mutants E70K and E300K, which are thought to be the cause of impaired insulin production by the pancreatic β-cell and decreased glucose uptake by the liver of patients with maturity-onset diabetes of the young, were found to be functionally indistinguishable from the wild-type, i.e. their kcat,S0.5, inflection point and hwere normal. However, these two mutants showed markedly reduced stability under a variety of test conditions. Glucokinase instability, not low enzyme catalytic activity, may be the cause of diabetes mellitus with E70K and E300K mutants.

scholarly journals Downregulation of Type II Diabetes Mellitus and Maturity Onset Diabetes of Young Pathways in Human Pancreatic Islets from Hyperglycemic Donors

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Jalal Taneera ◽  
Petter Storm ◽  
Leif Groop
Keyword(s):  
Gene Expression ◽  
Diabetes Mellitus ◽  
Pancreatic Islets ◽  
Type Ii Diabetes ◽  
Enrichment Analysis ◽  
Type Ii Diabetes Mellitus ◽  
Type Ii ◽  
Maturity Onset Diabetes ◽  
Human Pancreatic Islets ◽  
Onset Diabetes

Although several molecular pathways have been linked to type 2 diabetes (T2D) pathogenesis, it is uncertain which pathway has the most implication on the disease. Changes in the expression of an entire pathway might be more important for disease pathogenesis than changes in the expression of individual genes. To identify the molecular alterations in T2D, DNA microarrays of human pancreatic islets from donors with hyperglycemian=20and normoglycemian=58were subjected to Gene Set Enrichment Analysis (GSEA). About 178 KEGG pathways were investigated for gene expression changes between hyperglycemic donors compared to normoglycemic. Pathway enrichment analysis showed that type II diabetes mellitus (T2DM) and maturity onset diabetes of the young (MODY) pathways are downregulated in hyperglycemic donors, while proteasome and spliceosome pathways are upregulated. The mean centroid of gene expression of T2DM and MODY pathways was shown to be associated positively with insulin secretion and negatively with HbA1c level. To conclude, downregulation of T2DM and MODY pathways is involved in islet function and might be involved in T2D. Also, the study demonstrates that gene expression profiles from pancreatic islets can reveal some of the biological processes related to regulation of glucose hemostats and diabetes pathogenesis.

scholarly journals Role of Green Tea on Obesity and Type-II Diabetes Mellitus Male Individuals

2021 ◽  
pp. 183-187
Author(s):  
Tazeen Shah ◽  
Saira Dars ◽  
Saima Ashfaque Sheikh ◽  
Farheen Shaikh ◽  
Shafaq Ansari ◽  
...  
Keyword(s):  
Green Tea ◽  
Total Body Weight ◽  
Type Ii Diabetes Mellitus ◽  
Serum Glucose ◽  
The Body ◽  
Research Centre ◽  
P Value ◽  
Glucose Levels ◽  
Total Body

Objective: To evaluate the effects of Green tea on obesity and hyperglycemia. Methodology: This observational study was carried out at the department of physiology, in affiliation to Medical Research Centre Liaquat University of Medical and Health Sciences Jamshoro. The sample was collected by convenient random sampling. Total 100 participants, 50 controls and 50 obese diabetics were enrolled. Informed written consent was taken from participants. The body mass index (BMI) of the participants was taken at the time of recruitment, and later at 16 weeks of consuming green tea. The serum glucose levels were assessed by fasting (FBS) and random blood sugar (RBS) levels, and HbA1C. The levels of serum Blood glucose were obtained with the glucose oxidase method. Data analysis was done on SPSS 21.0, analysis of variables was done by applying student t-test, the p-value of <0.05 was taken as statistically significant. Results:100 participants recruited out of which 50 controls and 50 obese diabetics men, it was found that the prolong consumption of green tea for 16 weeks with 20-30 minutes’ walk had statistically significant declined in FBS, RBS, HbA1c, and BMI in the obese diabetic subjects, as compared to the controls. Conclusion: This study concludes that the green tea has positive effect in reducing the total body weight and BMI and helps in maintaining the normoglycemic levels in Type 2 DM.

Sign in / Sign up

Export Citation Format

Share Document