Analysis of mutations in the glucokinase gene in people clinically characterized as MODY2 without a family history of diabetes

Lopez, Ariel Pablo; Dios, Alejandro De; Chiesa, Ignacio Javier; Pérez, Mario Noa; Frechtel, Gustavo Daniel

doi:10.1016/j.diabres.2016.04.057

Cited by 5 publications

(9 citation statements)

References 28 publications

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“…This is the first reported case in Perú, and in a Mestizo-Peruvian ethnic group, which consist in a population with Native-American and European ancestries [13]. Other countries in Latin America, such as Argentina and Chile, also have reported cases mainly associated with GCK-MODY, which seems to be frequent in our region [6,7,14]. It should be noted that not all countries in Latin-American have the same ethnic groups.…”

Section: Discussionmentioning

confidence: 51%

“…Frequently, MODY diabetes is present in at least two consecutive generations, although this is not a good discriminator from young patients with Type 2 diabetes [20,21]. Few de novo mutations have been reported, suggesting a low prevalence [6,8]. Nevertheless, in the recent years the views on prevalence have been changing, and new publications suggest that de novo mutations could be more frequent than deduced from previously available [8].…”

Section: Discussionmentioning

confidence: 99%

“…Nevertheless, in the recent years the views on prevalence have been changing, and new publications suggest that de novo mutations could be more frequent than deduced from previously available [8]. A recent report in a Latin-American country, showed that 14% of GCK-MODY cases were de novo [6].…”

Section: Discussionmentioning

confidence: 99%

“…To date, over 600 different GCK-MODY mutations have been reported and it has been described in the literature in a variety of ethnic groups, most of them in Europeans countries (Italy, France, United Kingdom and Spain, according to the literature) and in North America [1,3,[5][6][7]. There is little information about the frequency of MODY in Latin America, and it is lower when we try to find information in countries with © The Author(s).…”

Section: Introductionmentioning

confidence: 99%

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Atypical hyperglycemia presentation suggests considering a diagnostic of other types of diabetes: first reported GCK-MODY in Perú

Lizarzaburu-Robles

Torre

Castro-Mujica

et al. 2020

Clin Diabetes Endocrinol

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Background: Prevalence of maturity-onset diabetes of the young (MODY) is estimated between 1 and 2% of all diabetes cases. In Latin-America little information has been described about the frequency of the disease, perhaps due to limited access to genetic studies. Case presentation: We present the case of a male patient with a history of two years of fatigue, mild hyperglycemia and intermittent polyuria, accompanied by a recent history of weight loss. He was diagnosed initially as type 2 diabetes, but in the follow-up as a patient with type 1 diabetes. He required relatively low doses of insulin and was evaluated in the endocrinology service at a hospital in Lima. The results of glucose, insulin and C-peptide in the oral glucose tolerance test (OGTT) performed were not consistent with a type 1 diabetes. Moreover, the age of the patient and the clinical characteristics did not strongly suggest a diagnosis of type 2 diabetes either. These clinical features had prompted us to carry out the genetic study. The genetic test performed with a genetic MODY panel through a massive sequencing. Heterozygous pathogenic for a variant in GCK gene was found c.629C>T p.(Thr210Met). His parents were negative for this variant after performed the genetic test. Conclusions: This is the first case of MODY for a pathogenic variant in the GCK gene reported in Perú. The genetic evaluation of a clinical suspicion of MODY is important to confirm the diagnosis and establish an adequate treatment in patients.

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Section: Discussionmentioning

confidence: 51%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Atypical hyperglycemia presentation suggests considering a diagnostic of other types of diabetes: first reported GCK-MODY in Perú

Lizarzaburu-Robles

Torre

Castro-Mujica

et al. 2020

Clin Diabetes Endocrinol

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“…MODY is characterized by monogenetic defects in β-cell function of islets of Langerhans. The genetic defects which are inherited in autosomal dominant pattern of the β-cell are characterized by impaired insulin secretion with minimal or no defects in insulin action [21, 59, 60–62]. …”

Section: Other Types Of T2dmmentioning

confidence: 99%

Dynamics of diabetes and obesity: Epidemiological perspective

Boles¹,

Kandimalla

Reddy³

2017

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Diseas

205

119

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The purpose of this review article is to understand the current literature on obesity, diabetes and therapeutic avenues across the world. Diabetes is a chronic lifestyle condition that affects millions of people worldwide and it is a major health concern in our society. Diabetes and obesity are associated with various conditions, including non-modifiable and modifiable risk factors. Early detectable markers are not well established to detect pre-diabetes and as a result, it becomes diabetes. Several published epidemiological studies were assessed and the findings were summarized. Resources from published studies were used to identify criteria used for pre-diabetes, the role of diet in pre-diabetics and potential risks and characteristics associated with pre-diabetes. Preventive strategies are needed to combat diabetes. Individuals diagnosed with pre-diabetes need detailed education, need to fully understand the risk factors and have the ability to manage diabetes. Interventions exist that include chronic disease self-management programs, lifestyle interventions and pharmacological strategies. Obesity plays a large role in causing pre-diabetes and diabetes. Critical analysis of existing epidemiological research data suggests that additional research is needed to determine the efficacy of interventions.

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A clinical mutation in glucokinase causing maturity‐onset diabetes in the young type 2 increases enzyme activity

et al. 2022

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Edited by Barry HalliwellGlucokinase (GCK) is the pancreatic β-cell glucose sensor, and its kinetics are key to that purpose. A slow transition step, displayed as non-hyperbolic kinetics, and a low affinity for glucose characterize GCK. Mutations in GCK associated with maturity-onset diabetes of the young type 2 (MODY2) previously described reduce the functionality of the human pancreatic β-cell, leading to diabetic clinical phenotypes. We present a kinetic characterization of the G448D mutation identified in a MODY2 patient, which is one of the first mutations to exhibit increased functionality. This mutant displays increased activity, high affinity for both Mg 2+ -ATP and glucose, hyperbolic kinetics and increased phosphorylation potential. Hyperbolic kinetics and assays in the presence of glycerol indicate that G448D lacks the slow transition step crucial for the pancreatic β-cell glucose sensor function.

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Analysis of mutations in the glucokinase gene in people clinically characterized as MODY2 without a family history of diabetes

Cited by 5 publications

References 28 publications

Atypical hyperglycemia presentation suggests considering a diagnostic of other types of diabetes: first reported GCK-MODY in Perú

Atypical hyperglycemia presentation suggests considering a diagnostic of other types of diabetes: first reported GCK-MODY in Perú

Dynamics of diabetes and obesity: Epidemiological perspective

A clinical mutation in glucokinase causing maturity‐onset diabetes in the young type 2 increases enzyme activity

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