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Related Concept Videos

Type I Diabetes II: Pathophysiology01:26

Type I Diabetes II: Pathophysiology

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Type 1 diabetes mellitus arises from an immune-mediated destruction of pancreatic β-cells, resulting in an absolute deficiency of insulin. This process develops in genetically susceptible individuals when autoimmunity, environmental exposures, and immunologic dysregulation converge to trigger a targeted attack on the insulin-producing cells of the pancreas. The β-cells are located within the islets of Langerhans and are essential for regulating blood glucose by facilitating cellular...
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Type II Diabetes I: Introduction01:26

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Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder characterized by insulin resistance, in which target tissues such as the liver, muscle, and adipose tissue respond poorly to insulin. It is also associated with inadequate compensatory insulin secretion, where pancreatic β-cells fail to produce sufficient insulin. Together, these abnormalities lead to persistent hyperglycemia.EtiologyT2DM develops through a complex interaction of genetic predisposition and environmental or...
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Type I Diabetes I: Introduction01:12

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Type 1 diabetes mellitus is a chronic metabolic disorder characterized by an absolute deficiency of insulin resulting from the autoimmune destruction of pancreatic β-cells. Although it can occur at any age, it is most commonly diagnosed in childhood, adolescence, or early adulthood. The loss of insulin production impairs cellular glucose uptake, resulting in persistent hyperglycemia and necessitating lifelong insulin therapy.Autoimmune Destruction of β-CellsThe hallmark of type 1...
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Type II Diabetes II: Pathophysiology01:24

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PathophysiologyType 2 diabetes mellitus (T2DM ) is a chronic metabolic disorder characterized by insulin resistance and progressive pancreatic β-cell dysfunction, leading to impaired glucose homeostasis. It results from interactions among genetic predisposition, environmental factors, and metabolic stressors, such as overnutrition and a sedentary lifestyle.Insulin Resistance and Glucose DysregulationEarly T2DM involves insulin resistance in skeletal muscle, adipose tissue, and the liver.
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Diabetes Mellitus: Overview and Type I Subtype01:22

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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.
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
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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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Digenic HNF1A and ABCC8 Variants Provide Mechanistic Insight into Early-Onset Diabetes.

Makie Honda1, Ryo Honda2,3, Teiko Komori Nomura2

  • 1Department of Diabetes and Endocrinology, Gifu University, Graduate School of Medicine, Gifu, 501-1194, Japan.

The Journal of Clinical Endocrinology and Metabolism
|April 22, 2026
PubMed
Summary

Digenic inheritance of HNF1A and ABCC8 variants contributes to early-onset diabetes. Additive effects of these variants, along with intrauterine hyperglycemia, accelerated disease onset in a MODY-like family.

Keywords:
ABCC8Digenic inheritanceHNF1AKATP channelMODYβ-cell dysfunction

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Area of Science:

  • Genetics
  • Endocrinology
  • Molecular Biology

Background:

  • Oligogenic inheritance in maturity-onset diabetes of the young (MODY) is not well understood.
  • The role of multiple gene variants in MODY pathogenesis requires further investigation.

Purpose of the Study:

  • To investigate the pathogenicity and mechanistic contribution of multiple MODY gene variants in a MODY-like family.
  • To determine the role of these variants in early-onset diabetes.

Main Methods:

  • Comprehensive genetic analysis of known MODY genes.
  • Functional assessment of HNF1A and HNF1B variants using luciferase reporter assays.
  • Functional characterization of ABCC8 variants via thallium flux assays and channel stability studies.

Main Results:

  • Identified four variants in three MODY genes: HNF1A p.Ser551Lysfs*2 (loss-of-function), HNF1B p.Glu102Ala (wild-type-like), and ABCC8 p.Arg298Cys (reduced channel activity) and p.Arg521Gln (wild-type-like).
  • Segregation analysis revealed HNF1A p.Ser551Lysfs*2 and ABCC8 p.Arg298Cys in affected parents.
  • The proband inherited both pathogenic variants, leading to earlier diabetes onset, potentially influenced by intrauterine hyperglycemia.

Conclusions:

  • Functional characterization differentiated pathogenic variants from those of unknown significance.
  • Digenic inheritance of HNF1A and ABCC8 variants, with additive effects, likely accelerated MODY onset.
  • This study provides mechanistic insights into oligogenic contributions to MODY and expands the understanding of early-onset diabetes genetics.