Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Diabetes Mellitus: Overview and Type I Subtype01:22

Diabetes Mellitus: Overview and Type I Subtype

2.6K
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...
2.6K
Pathophysiology of Diabetes01:20

Pathophysiology of Diabetes

921
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.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
921
Diabetes Mellitus: Type 2 and Gestational01:22

Diabetes Mellitus: Type 2 and Gestational

2.3K
Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
2.3K
Diabetes: Symptoms, Diagnosis, and Complications01:15

Diabetes: Symptoms, Diagnosis, and Complications

526
For most patients, experiencing several weeks of polyuria, polydipsia, fatigue, and significant weight loss may indicate the presence of diabetes. Furthermore, adults displaying the phenotypic appearance of type 2 diabetes (particularly those who are obese and not initially insulin-requiring), may have islet cell autoantibodies, suggesting autoimmune-mediated β cell destruction and a diagnosis of latent autoimmune diabetes of adults (LADA). The categorization of glucose homeostasis is...
526
Cell Specific Gene Expression01:58

Cell Specific Gene Expression

13.6K
Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
13.6K
Insulin: The Receptor and Signaling Pathways01:28

Insulin: The Receptor and Signaling Pathways

1.2K
Insulin action is mediated through a receptor tyrosine kinase, akin to the IGF-1 receptor. The number of receptors per cell varies significantly, from 40 on erythrocytes to 300,000 on adipocytes and hepatocytes. The insulin receptor consists of linked α/β subunit dimers, forming a heterotetramer glycoprotein with two extracellular α subunits and two β subunits spanning the membrane. The α subunits inhibit the inherent tyrosine kinase activity of the β subunits, but...
1.2K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Subgroups of Adult-Onset Diabetes: A Prospective Follow-Up Study of Progression of Insulin Resistance and Deficiency and Association With Liver Steatosis and Fibrosis.

Diabetes, obesity & metabolism·2026
Same author

Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk.

Nature genetics·2026
Same author

A new form of diabetes caused by INS mutations defined by zygosity, stem cell and population data.

EMBO molecular medicine·2026
Same author

Metabolic costs and trade-offs of hypermetabolism in human motor neurons with ATP synthase deficiency.

Communications biology·2025
Same author

Latent plasticity of the human pancreas across development, health, and disease.

bioRxiv : the preprint server for biology·2025
Same author

Polygenic determinants of monogenic diabetes.

Nature metabolism·2025
Same journal

Correction: Analysis of glycaemic control with a connected smart pen cap in adults with type 1 diabetes: a randomised, open-label, parallel-group trial.

Diabetologia·2026
Same journal

History of infertility, risk of type 2 diabetes and HbA<sub>1c</sub> levels in the Nurses' Health Study II.

Diabetologia·2026
Same journal

Delayed maturation of the milk microbiome in women with type 1 diabetes.

Diabetologia·2026
Same journal

Remodelling of body composition surrounding the diagnosis of type 2 diabetes in three longitudinal cohorts.

Diabetologia·2026
Same journal

SARS-CoV-2 and diabetes: a post-pandemic reappraisal.

Diabetologia·2026
Same journal

Degree of islet function preservation and continuous glucose monitoring in individuals undergoing total pancreatectomy with islet autotransplantation.

Diabetologia·2026
See all related articles

Related Experiment Video

Updated: Jun 26, 2025

High-resolution Respirometry to Measure Mitochondrial Function of Intact Beta Cells in the Presence of Natural Compounds
12:32

High-resolution Respirometry to Measure Mitochondrial Function of Intact Beta Cells in the Presence of Natural Compounds

Published on: January 23, 2018

12.0K

RFX6 haploinsufficiency predisposes to diabetes through impaired beta cell function.

Hazem Ibrahim1, Diego Balboa2, Jonna Saarimäki-Vire2

  • 1Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland. hazem.ibrahim@helsinki.fi.

Diabetologia
|May 14, 2024
PubMed
Summary
This summary is machine-generated.

Regulatory factor X 6 (RFX6) is crucial for pancreatic beta cell development. Loss-of-function variants impair insulin secretion, increasing diabetes risk in carriers.

Keywords:
Beta cellsGlucose-stimulated insulin secretionIsogenic allelic series modelsMonogenic diabetesStem-cell-derived isletsType 2 diabetes

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.6K
Live Images of GLUT4 Protein Trafficking in Mouse Primary Hypothalamic Neurons Using Deconvolution Microscopy
08:47

Live Images of GLUT4 Protein Trafficking in Mouse Primary Hypothalamic Neurons Using Deconvolution Microscopy

Published on: December 7, 2017

9.7K

Related Experiment Videos

Last Updated: Jun 26, 2025

High-resolution Respirometry to Measure Mitochondrial Function of Intact Beta Cells in the Presence of Natural Compounds
12:32

High-resolution Respirometry to Measure Mitochondrial Function of Intact Beta Cells in the Presence of Natural Compounds

Published on: January 23, 2018

12.0K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.6K
Live Images of GLUT4 Protein Trafficking in Mouse Primary Hypothalamic Neurons Using Deconvolution Microscopy
08:47

Live Images of GLUT4 Protein Trafficking in Mouse Primary Hypothalamic Neurons Using Deconvolution Microscopy

Published on: December 7, 2017

9.7K

Area of Science:

  • Endocrinology
  • Developmental Biology
  • Genetics

Background:

  • Regulatory factor X 6 (RFX6) is essential for pancreatic endocrine development.
  • A specific RFX6 variant is common in Finland, linked to increased type 2 and gestational diabetes risk.
  • The mechanism behind this predisposition is not well understood.

Purpose of the Study:

  • To investigate the role of the RFX6 variant in beta cell development and function.
  • To create and utilize isogenic stem cell models for studying RFX6's impact.
  • To elucidate the cellular and molecular mechanisms underlying diabetes predisposition.

Main Methods:

  • Generated isogenic human embryonic and patient-derived stem cell models using CRISPR.
  • Differentiated stem cells into stem-cell-derived islets (SC-islets).
  • Implanted SC-islets into immunocompromised mice for in vivo assessment.

Main Results:

  • Homozygous RFX6 knockout models failed to produce insulin-secreting beta cells.
  • Heterozygous RFX6 models showed haploinsufficiency, reduced beta cell maturation, and impaired insulin secretion.
  • Reduced insulin secretion in heterozygous models persisted after in vivo implantation.

Conclusions:

  • RFX6 is critical for maintaining the pancreatic progenitor pool and beta cell function.
  • RFX6 haploinsufficiency impairs insulin secretion without affecting beta cell mass or insulin content.
  • This study provides a model for understanding diabetes etiology in carriers of RFX6 loss-of-function variants.