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

2.4K
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...
2.4K
Diabetes Mellitus: Type 2 and Gestational01:22

Diabetes Mellitus: Type 2 and Gestational

2.1K
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...
2.1K
Pathophysiology of Diabetes01:20

Pathophysiology of Diabetes

842
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,...
842
Carbohydrate Metabolism01:36

Carbohydrate Metabolism

10.7K
Carbohydrates are polymers composed of molecules containing atoms of carbon, hydrogen and oxygen. One gram of carbohydrate can provide four kilo-calories of energy, which makes it the most efficient instant energy source.
Starch accounts for approximately 60% of the carbohydrates consumed by humans. Since amylase enzymes cannot function in the stomach's acidic environment, starch can only be digested in the mouth and small intestine. Simple sugars are found naturally in milk and fruits in...
10.7K
Insulin Secretory Vesicles01:05

Insulin Secretory Vesicles

4.8K
Insulin secretory vesicles release insulin to stimulate blood glucose uptake and regulate carbohydrate metabolism. When the blood glucose levels increase, glucose enters the pancreatic β-islet cells through glucose transporters. Once inside, glucose is metabolized through glycolysis, the citric acid cycle, and the electron transport chain, producing ATP. This increase in ATP concentration closes ATP-sensitive potassium channels, leading to depolarization of the membrane and the opening of...
4.8K
Diabetes: Symptoms, Diagnosis, and Complications01:15

Diabetes: Symptoms, Diagnosis, and Complications

495
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...
495

You might also read

Related Articles

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

Sort by
Same author

Treatment non-persistence in children and adolescents with Tourette syndrome newly treated with dopamine D2 receptor modulators.

Frontiers in psychiatry·2026
Same author

To Cluster or Not to Cluster? A Comparison of Approaches to Targeting Type 2 Diabetes Glucose-Lowering Therapy in the TriMaster Crossover Trial.

Diabetes care·2026
Same author

Efficacy and Safety of Ecopipam for Tourette Syndrome: A Phase 3 Randomized Clinical Trial.

JAMA neurology·2026
Same author

Precision Prescribing of SGLT2 Inhibitors in Individuals With Type 2 Diabetes for Primary Prevention of Heart Failure: Model Development and Validation Study.

Diabetes care·2026
Same author

Kidney outcomes with GLP-1 receptor agonists in people with type 2 diabetes already receiving SGLT2 inhibitors: a target trial emulation study using UK primary care data.

The Lancet. Primary care·2026
Same author

Economic effectiveness of pharmacogenomics-guided prescribing for psychiatric disorders: a systematic review and meta-analysis.

The pharmacogenomics journal·2026
Same journal

Tissue MicroRNAs in Arrhythmogenic Cardiomyopathy: A Systematic Review of Studies in Human Myocardium and Animal Models with Implications for Post-Mortem Molecular Diagnostics.

Genes·2026
Same journal

Genetic Variants and Dental Caries Susceptibility: An Umbrella Review and Multilevel Meta-Analysis.

Genes·2026
Same journal

Generative AI and Language Models in Human Genetics and Health: From Variant Interpretation to Clinical Decision Support.

Genes·2026
Same journal

Familial White-Sutton Syndrome Caused by a Pathogenic POGZ p.Arg508* Variant: Intrafamilial Variability from Childhood to Adulthood.

Genes·2026
Same journal

Genetic Influence on LDL-Cholesterol Levels: Role of Polygenic Risk Scores and Lp(a) Beyond Monogenic Hypercholesterolemia.

Genes·2026
Same journal

THBS1 as a Key Regulator of Myoblasts: Validation of Its Inhibitory Roles in Skeletal Muscle Development.

Genes·2026
See all related articles

Related Experiment Video

Updated: May 25, 2025

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
09:52

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

Published on: April 19, 2013

24.3K

Type 1 Diabetes Risk Variants Reduce Beta Cell Function.

Wiktoria Ratajczak1, Angus G Jones2, Sarah D Atkinson3

  • 1Personalised Medicine Centre, School of Medicine, Ulster University, C-TRIC Building, Altnagelvin Hospital Campus, Glenshane Road, Derry BT48 7JL, UK.

Genes
|February 26, 2025
PubMed
Summary
This summary is machine-generated.

Genetic variants rs10517086 and rs1534422 negatively impact beta cell function by increasing HNF1A and inflammation, suggesting their use as type 1 diabetes mellitus prognostic markers.

Keywords:
inflammationrisk variantstype 1 diabetesβ cells

More Related Videos

Accelerated Type 1 Diabetes Induction in Mice by Adoptive Transfer of Diabetogenic CD4+ T Cells
06:27

Accelerated Type 1 Diabetes Induction in Mice by Adoptive Transfer of Diabetogenic CD4+ T Cells

Published on: May 6, 2013

16.7K
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

Related Experiment Videos

Last Updated: May 25, 2025

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
09:52

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

Published on: April 19, 2013

24.3K
Accelerated Type 1 Diabetes Induction in Mice by Adoptive Transfer of Diabetogenic CD4+ T Cells
06:27

Accelerated Type 1 Diabetes Induction in Mice by Adoptive Transfer of Diabetogenic CD4+ T Cells

Published on: May 6, 2013

16.7K
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

Area of Science:

  • Endocrinology
  • Genetics
  • Immunology

Background:

  • The genetic variants rs10517086 and rs1534422 are linked to type 1 diabetes mellitus (T1DM) development and diminished beta cell function.
  • The precise mechanisms underlying the risk conferred by these variants remain unclear.

Purpose of the Study:

  • To investigate the in vitro impact of rs10517086 and rs1534422 on beta cell function.
  • To assess the association of these variants with C-peptide levels in individuals with T1DM and T2DM.

Main Methods:

  • CRISPR/Cas9 was used to introduce the variants into beta (BRIN-BD11) and T (Jurkat) cell lines.
  • Conditioned media from modified cells was applied to healthy beta cells to simulate an inflammatory environment.

Main Results:

  • Both variants impaired glucose-stimulated insulin secretion and increased pro-inflammatory cytokines.
  • Expression of key beta cell markers decreased, while HNF1A was significantly upregulated.
  • Silencing HNF1A normalized gene expression and reduced lncRNA induction.
  • rs10517086_A genotype associated with C-peptide in T1DM, but not T2DM patients.

Conclusions:

  • rs1534422 and rs10517086 negatively affect beta cells via HNF1A upregulation and inflammation.
  • These variants show potential as prognostic markers for beta cell function in T1DM.