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Diabetes mellitus is a chronic metabolic disorder characterized by high blood glucose levels due to inadequate insulin production, insulin resistance, or both. The condition affects millions worldwide and can significantly impact their health and quality of life.
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Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
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Monogenic diabetes.

Yukio Horikawa1,2,3, Kazuyoshi Hosomichi4, Daisuke Yabe1,5,6,7

  • 1Department of Diabetes, Endocrinology and Metabolism, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, Japan.

Diabetology International
|October 29, 2024
PubMed
Summary

Monogenic diabetes, caused by single-gene mutations, offers insights into insulin secretion mechanisms. Studying these rare forms helps understand and target treatments for common type 2 diabetes (T2DM).

Keywords:
Insulin resistanceInsulin secretionMaternally Inherited Diabetes and Deafness (MIDD)Maturity-onset diabetes of the young (MODY)Neonatal diabetes mellitus (NDM)Type 2 diabetes (T2DM)

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Area of Science:

  • Genetics
  • Endocrinology
  • Metabolic Diseases

Background:

  • Monogenic disorders result from single-gene mutations, unlike multifactorial diseases like type 2 diabetes (T2DM).
  • Examples include neonatal diabetes mellitus (NDM), maturity-onset diabetes of the young (MODY), and mitochondrial diabetes (MIDD).
  • Understanding monogenic diabetes elucidates molecular mechanisms of insulin secretion and sensitivity.

Purpose of the Study:

  • To characterize the identified monogenic subtypes of diabetes.
  • To explore the molecular basis of insulin secretion and sensitivity.
  • To identify potential therapeutic targets for both monogenic and multifactorial diabetes.

Main Methods:

  • Genetic analysis to identify causative mutations in monogenic diabetes.
  • Clinical phenotyping of patients with various diabetes subtypes.
  • Molecular studies to investigate gene function and impact on insulin secretion.

Main Results:

  • Identification of specific genes responsible for monogenic diabetes subtypes.
  • Elucidation of novel molecular pathways affecting insulin secretion and sensitivity.
  • Demonstration of shared pathophysiological links between monogenic and multifactorial diabetes.

Conclusions:

  • Monogenic diabetes subtypes provide critical insights into diabetes pathophysiology.
  • Genetic discoveries in monogenic forms can inform drug development for T2DM.
  • Targeting insulin secretion defects is crucial for managing both rare and common diabetes forms.