Related Experiment Video
Updated: Feb 9, 2026
10:02
Visualization and Analysis of Pharyngeal Arch Arteries using Whole-mount Immunohistochemistry and 3D Reconstruction
Published on: March 31, 2020
10.0K
DiGeorge syndrome and pharyngeal apparatus development
Heiko Wurdak1, Lars M Ittner, Lukas Sommer
1Institute of Cell Biology, Department of Biology, ETH Zurich, ETH-Hönggerberg, Zurich, Switzerland.
Summary
DiGeorge syndrome, a common microdeletion disorder, stems from disrupted pharyngeal apparatus development. Mouse models reveal critical genes and pathways, highlighting two key developmental phases whose interference causes this condition.
Area of Science:
- Developmental Biology
- Human Genetics
- Medical Research
Background:
- DiGeorge syndrome is the most common human microdeletion syndrome.
- It causes cardiovascular, thymic, parathyroid, and craniofacial abnormalities.
- The syndrome results from impaired pharyngeal apparatus development.
Purpose of the Study:
- To investigate the genetic and signaling pathways involved in pharyngeal apparatus formation.
- To understand the etiology of DiGeorge syndrome using engineered mouse models.
- To identify critical developmental phases contributing to the syndrome's phenotype.
Main Methods:
- Analysis of engineered mouse mutants exhibiting DiGeorge syndrome-like phenotypes.
- Investigating gene functions and signaling pathways essential for pharyngeal apparatus development.
- Comparative analysis of distinct developmental phases of the pharyngeal apparatus.
Main Results:
- Identified key genes and signaling pathways crucial for pharyngeal apparatus development.
- Mouse models revealed that disruptions in two distinct developmental phases can lead to DiGeorge syndrome.
- Demonstrated the complex interplay of ectoderm, endoderm, mesoderm, and neural crest derivatives.
Conclusions:
- Pharyngeal apparatus development is a complex process involving multiple cell types and signaling pathways.
- Interference with specific phases of pharyngeal apparatus development is a significant contributor to DiGeorge syndrome etiology.
- Engineered mouse models are valuable tools for dissecting the genetic basis of human developmental disorders.
More Related Videos
Related Concept Videos
01:49Golgi Apparatus
103.0K
As they leave the Endoplasmic Reticulum (ER), properly folded and assembled proteins are selectively packaged into vesicles. These vesicles are transported by microtubule-based motor proteins and fuse together to form vesicular tubular clusters, subsequently arriving at the Golgi apparatus, a eukaryotic endomembrane organelle that often has a distinctive ribbon-like appearance.
103.0K
01:24Nephrotic Syndrome I : Introduction
661
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
661
01:30Acute Coronary Syndrome I: Introduction
1.0K
Acute Coronary Syndrome (ACS) encompasses a spectrum of heart conditions caused by sudden obstruction of coronary arteries, typically resulting from the rupture of an atherosclerotic plaque and subsequent thrombus (blood clot) formation. This obstruction can lead to partial or complete blockage of blood flow, causing varying degrees of myocardial ischemia or infarction.ACS includes the following clinical entities:Unstable Angina (UA)Non-ST-Elevation Myocardial Infarction (NSTEMI)ST-Elevation...
1.0K
01:30Acute Pharyngitis
4.4K
Introduction
Acute pharyngitis is the inflammation of the back of the throat (pharynx), commonly resulting in a sore throat. It is a frequently encountered condition that prompts individuals to seek medical advice.
Classification
Acute pharyngitis can be categorized based on its underlying cause:
Acute pharyngitis is the inflammation of the back of the throat (pharynx), commonly resulting in a sore throat. It is a frequently encountered condition that prompts individuals to seek medical advice.
Classification
Acute pharyngitis can be categorized based on its underlying cause:
4.4K
01:23Chronic Pharyngitis
12.2K
Chronic pharyngitis refers to persistent inflammation of the pharyngial mucosa.
Etiology
It often arises from persistent viral or bacterial infections affecting sinuses and tonsils.
Additional contributing factors include inadequate dental hygiene, mouth breathing, recurring tonsillitis, allergic rhinitis, laryngopharyngeal reflux, and exposure to smoke, chemicals, and other environmental pollutants. Allergic reactions to pollen, mold, and pet dander, chronic cough, excessive voice usage,...
Etiology
It often arises from persistent viral or bacterial infections affecting sinuses and tonsils.
Additional contributing factors include inadequate dental hygiene, mouth breathing, recurring tonsillitis, allergic rhinitis, laryngopharyngeal reflux, and exposure to smoke, chemicals, and other environmental pollutants. Allergic reactions to pollen, mold, and pet dander, chronic cough, excessive voice usage,...
12.2K
01:09Golgi Apparatus
21.9K
Properly folded and assembled proteins are selectively packaged into vesicles that exit the ER. Motor proteins transport these vesicles to the Golgi apparatus for adding modifications that make these proteins functional at their destination.
The Golgi apparatus is a eukaryotic organelle that has a distinctive ribbon-like appearance. It is a primary sorting and dispatch station for cargo arriving from the ER. Newly arriving vesicles enter the cis face of the Golgi, closest to the ER, and are...
The Golgi apparatus is a eukaryotic organelle that has a distinctive ribbon-like appearance. It is a primary sorting and dispatch station for cargo arriving from the ER. Newly arriving vesicles enter the cis face of the Golgi, closest to the ER, and are...
21.9K