Related Experiment Video
Updated: Mar 7, 2026
11:34
Single-cell RNA Sequencing and Analysis of Human Pancreatic Islets
Published on: July 18, 2019
17.2K
Genomics of Islet (Dys)function and Type 2 Diabetes
Nathan Lawlor1, Shubham Khetan2, Duygu Ucar3
1The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Trends in Genetics : TIG
|March 2, 2017
Summary
Type 2 diabetes involves pancreatic islet dysfunction. Advanced genetic and cellular analyses reveal key factors, guiding precision medicine for diabetes prevention and treatment.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Pancreatic islet dysfunction and beta cell failure are central to type 2 diabetes mellitus (T2DM) pathogenesis.
- Understanding the interplay of genetic and environmental factors is crucial for T2DM research.
Purpose of the Study:
- To review current insights into the genetic, environmental, and cellular contributions to islet dysfunction in T2DM.
- To highlight the role of advanced genomic and transcriptomic profiling techniques.
- To discuss future directions for dissecting T2DM pathogenesis and developing precision medicine.
Main Methods:
- Review of genome-wide association studies (GWASs).
- Analysis of recent islet (epi)genome and transcriptome profiling, including single-cell analyses.
- Discussion of emerging genetic interrogation and modeling techniques.
Main Results:
- GWASs and single-cell analyses provide novel insights into islet dysfunction in T2DM.
- Identification of genetic, environmental, and cellular factors contributing to T2DM pathogenesis.
- Highlighting the potential of advanced molecular profiling for understanding disease mechanisms.
Conclusions:
- Interrogating genetic variation is key to understanding T2DM molecular genetics.
- Next-generation cellular and animal models are needed for T2DM research.
- Precision medicine approaches for T2DM require further development based on these insights.
Related Concept Videos
01:22Diabetes Mellitus: Type 2 and Gestational
5.3K
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...
5.3K
01:22Diabetes Mellitus: Overview and Type I Subtype
5.7K
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...
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...
5.7K
01:20Pathophysiology of Diabetes
4.0K
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,...
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,...
4.0K
01:36Carbohydrate Metabolism
14.7K
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...
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...
14.7K
01:27Glucose Homeostasis: Pancreatic Islets and Insulin Secretion
2.9K
The pancreatic islets comprising only 1%-2% of the volume are highly vascularized and innervated mini-organs. They contain five endocrine cell types, including β cells that secrete insulin, which is synthesized as a single polypeptide chain, preproinsulin, processed to proinsulin, and finally to insulin and C-peptide. This process is complex and regulated, involving the Golgi complex, the endoplasmic reticulum, and the secretory granules of the β cell.
Insulin and C-peptide are...
Insulin and C-peptide are...
2.9K
01:05Insulin Secretory Vesicles
7.2K
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...
7.2K