Maturity-onset diabetes of the young: update and perspectives on diagnosis and treatment

Jang, Kyung Mi

doi:10.12701/yujm.2019.00409

Cited by 32 publications

(46 citation statements)

References 74 publications

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“…The pathophysiology and clinical characteristics of the most common types of MODY: GCK-MODY, HNF1A-MODY, and HNF4A-MODY-are described below. More specific information about each MODY subtype, including the more rare ones, is available in recent review articles [1,28].…”

Section: Clinical Characteristics and Treatments According To Mody Sumentioning

confidence: 99%

Update on Monogenic Diabetes in Korea

2020

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Monogenic diabetes, including maturity-onset diabetes of the young, neonatal diabetes, and other rare forms of diabetes, results from a single gene mutation. It has been estimated to represent around 1% to 6% of all diabetes. With the advances in genome sequencing technology, it is possible to diagnose more monogenic diabetes cases than ever before. In Korea, 11 studies have identified several monogenic diabetes cases, using Sanger sequencing and whole exome sequencing since 2001. The recent largest study, using targeted exome panel sequencing, found a molecular diagnosis rate of 21.1% for monogenic diabetes in clinically suspected patients. Mutations in glucokinase (GCK), hepatocyte nuclear factor 1α (HNF1A), and HNF4A were most commonly found. Genetic diagnosis of monogenic diabetes is important as it determines the therapeutic approach required for patients and helps to identify affected family members. However, there are still many challenges, which include a lack of simple clinical criterion for selecting patients for genetic testing, difficulties in interpreting the genetic test results, and high costs for genetic testing. In this review, we will discuss the latest updates on monogenic diabetes in Korea, and suggest an algorithm to screen patients for genetic testing. The genetic tests and non-genetic markers for accurate diagnosis of monogenic diabetes will be also reviewed.

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Section: Clinical Characteristics and Treatments According To Mody Sumentioning

confidence: 99%

Update on Monogenic Diabetes in Korea

2020

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“…Currently, MODY is classified based on the affected gene [ 67 , 68 ]. However, a gene-based approach to classification assumes that MODY is one disease entity despite evidence of clinical, genetic, and pathophysiologic heterogeneity among the 14 recognized subtypes.…”

Section: Introductionmentioning

confidence: 99%

“…The hepatocyte nuclear factor 1 alpha (HNF1A) gene is expressed in liver, pancreas, kidney, and intestine [ 51 , 68 ]. The HNF1A protein is a member of the homeodomain-containing superfamily of nuclear transcription factors and regulates the expression of the genes that encode insulin (INS), glucose transporter (GLUT) 1 and 2, and sodium/glucose cotransporter 2 (SGLT2) [ 51 , 76 ].…”

Section: Introductionmentioning

confidence: 99%

The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY)

Nkonge

2020

Clin Diabetes Endocrinol

116

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Background The most common type of monogenic diabetes is maturity-onset diabetes of the young (MODY), a clinically and genetically heterogeneous group of endocrine disorders that affect 1–5% of all patients with diabetes mellitus. MODY is characterized by autosomal dominant inheritance but de novo mutations have been reported. Clinical features of MODY include young-onset hyperglycemia, evidence of residual pancreatic function, and lack of beta cell autoimmunity or insulin resistance. Glucose-lowering medications are the main treatment options for MODY. The growing recognition of the clinical and public health significance of MODY by clinicians, researchers, and governments may lead to improved screening and diagnostic practices. Consequently, this review article aims to discuss the epidemiology, pathogenesis, diagnosis, and treatment of MODY based on relevant literature published from 1975 to 2020. Main body The estimated prevalence of MODY from European cohorts is 1 per 10,000 in adults and 1 per 23,000 in children. Since little is known about the prevalence of MODY in African, Asian, South American, and Middle Eastern populations, further research in non-European cohorts is needed to help elucidate MODY’s exact prevalence. Currently, 14 distinct subtypes of MODY can be diagnosed through clinical assessment and genetic analysis. Various genetic mutations and disease mechanisms contribute to the pathogenesis of MODY. Management of MODY is subtype-specific and includes diet, oral antidiabetic drugs, or insulin. Conclusions Incidence and prevalence estimates for MODY are derived from epidemiologic studies of young people with diabetes who live in Europe, Australia, and North America. Mechanisms involved in the pathogenesis of MODY include defective transcriptional regulation, abnormal metabolic enzymes, protein misfolding, dysfunctional ion channels, or impaired signal transduction. Clinicians should understand the epidemiology and pathogenesis of MODY because such knowledge is crucial for accurate diagnosis, individualized patient management, and screening of family members.

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“…, MODY2, MODY8, and MODY11 (caused by mutation in the genes GCK , CEL , and BLK , respectively), and some involve other pancreatic genes, i.e. , MODY10, MODY12, MODY13 and MODY14 (caused by mutations in INS , SUR1 , KCNJ11 , and APPL1 genes, respectively) ( 7 – 9 ).…”

Section: Maturity Onset Diabetes Of the Young Genetics And Pathogenesmentioning

confidence: 99%

Modeling Maturity Onset Diabetes of the Young in Pluripotent Stem Cells: Challenges and Achievements

Braverman-Gross

Benvenisty

2021

Front. Endocrinol.

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Maturity onset diabetes of the young (MODY), is a group of monogenic diabetes disorders. Rodent models for MODY do not fully recapitulate the human phenotypes, calling for models generated in human cells. Human pluripotent stem cells (hPSCs), capable of differentiation towards pancreatic cells, possess a great opportunity to model MODY disorders in vitro. Here, we review the models for MODY diseases in hPSCs to date and the molecular lessons learnt from them. We also discuss the limitations and challenges that these types of models are still facing.

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Maturity-onset diabetes of the young: update and perspectives on diagnosis and treatment

Cited by 32 publications

References 74 publications

Update on Monogenic Diabetes in Korea

Update on Monogenic Diabetes in Korea

The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY)

Modeling Maturity Onset Diabetes of the Young in Pluripotent Stem Cells: Challenges and Achievements

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