Monogenic diabetes is caused by a mutation in a single gene and accounts for 1%-5% of all diabetes, including maturity-onset diabetes of the young (MODY), neonatal diabetes mellitus, mitochondrial diabetes, and syndromic diabetes (such as Wolfram syndrome and lipodystrophy). They are underdiagnosed and often misdiagnosed to type 1 or type 2 diabetes. Precise diagnosis is critical for certain types of monogenic diabetes since the appropriate treatment is determined by the etiology of the disease. For example, GCK-MODY patients do not require any treatment, HNF1A- and HNF4A-MODY patients can be treated with low-dose sulfonylureas, and patients with HNF1B-MODY require insulin treatment. Approximately 50% of patients with neonatal diabetes mellitus have mutations in the genes encoding the potassium channel (KCNJ11, ABCC8), who show excellent glucose control with high-dose sulfonylureas. However, the prevalence of monogenic diabetes is not clear in most countries or regions, and appropriate management is required urgently. Therefore, personalized medicine in monogenic diabetes subtypes is essential, and it can provide a basis for individualized treatment and prognosis.
This Research Topic aims to better understand the prevalence of monogenic diabetes, novel pathogenic genes and the pathogenesis of monogenic diabetes. We hope to reveal the relationship between the clinical phenotypes of monogenic diabetes and pathogenic mutations, and provide a theoretical basis for its precise treatment.
This Research Topic focuses on the genetic and clinical practice of monogenic diabetes. Submission of Original Research, Brief Research Reports, Reviews and Case reports are welcome. Topics of interest include but are not limited to:
• Improving the understanding of the epidemiology of monogenic diabetes, especially the pathogenic gene spectrum, incidence rate, and prevalence of a country or region.
• Discovering novel pathogenic genes for monogenic diabetes, to reveal the relationship between the clinical phenotypes of monogenic diabetes and pathogenic mutations.
• Revealing pathogenic mechanisms of novel pathogenic genes of monogenic diabetes and/or novel pathogenic mechanisms of known pathogenic genes.
• Improving the current strategies for the precision therapy of monogenic diabetes.
• New detection techniques or methods for monogenic diabetes and how to widely promote in clinical practice.
Monogenic diabetes is caused by a mutation in a single gene and accounts for 1%-5% of all diabetes, including maturity-onset diabetes of the young (MODY), neonatal diabetes mellitus, mitochondrial diabetes, and syndromic diabetes (such as Wolfram syndrome and lipodystrophy). They are underdiagnosed and often misdiagnosed to type 1 or type 2 diabetes. Precise diagnosis is critical for certain types of monogenic diabetes since the appropriate treatment is determined by the etiology of the disease. For example, GCK-MODY patients do not require any treatment, HNF1A- and HNF4A-MODY patients can be treated with low-dose sulfonylureas, and patients with HNF1B-MODY require insulin treatment. Approximately 50% of patients with neonatal diabetes mellitus have mutations in the genes encoding the potassium channel (KCNJ11, ABCC8), who show excellent glucose control with high-dose sulfonylureas. However, the prevalence of monogenic diabetes is not clear in most countries or regions, and appropriate management is required urgently. Therefore, personalized medicine in monogenic diabetes subtypes is essential, and it can provide a basis for individualized treatment and prognosis.
This Research Topic aims to better understand the prevalence of monogenic diabetes, novel pathogenic genes and the pathogenesis of monogenic diabetes. We hope to reveal the relationship between the clinical phenotypes of monogenic diabetes and pathogenic mutations, and provide a theoretical basis for its precise treatment.
This Research Topic focuses on the genetic and clinical practice of monogenic diabetes. Submission of Original Research, Brief Research Reports, Reviews and Case reports are welcome. Topics of interest include but are not limited to:
• Improving the understanding of the epidemiology of monogenic diabetes, especially the pathogenic gene spectrum, incidence rate, and prevalence of a country or region.
• Discovering novel pathogenic genes for monogenic diabetes, to reveal the relationship between the clinical phenotypes of monogenic diabetes and pathogenic mutations.
• Revealing pathogenic mechanisms of novel pathogenic genes of monogenic diabetes and/or novel pathogenic mechanisms of known pathogenic genes.
• Improving the current strategies for the precision therapy of monogenic diabetes.
• New detection techniques or methods for monogenic diabetes and how to widely promote in clinical practice.
