Related Experiment Video
Updated: Aug 7, 2026
06:35
In vivo Evaluation of Mucociliary Clearance in Mice
Published on: December 18, 2020
Cilia, primary ciliary dyskinesia and molecular genetics
R Chodhari1, H M Mitchison, M Meeks
1Department of Paediatrics and Child Health, Royal Free and University College Medical School, Bloomsbury Campus, Rayne Building, 5 University Street, WC1 E 6JJ, UK.
Paediatric Respiratory Reviews
|June 30, 2004
Summary
Primary ciliary dyskinesia (PCD) is a genetic disorder affecting cilia function, leading to infections and developmental issues. Research is identifying genes to improve diagnosis and treatment for this complex condition.
Area of Science:
- Genetics
- Cell Biology
- Developmental Biology
Background:
- Primary ciliary dyskinesia (PCD) is a heterogeneous genetic disorder affecting cilia.
- Cilia defects impact sinopulmonary health, fertility, and embryonic left-right axis determination.
- Three genetic mutations are currently identified, but more are expected.
Purpose of the Study:
- To accelerate the identification and characterization of genes responsible for PCD.
- To gain insights into cilia assembly and function.
- To explore the genetic basis of left-right axis determination.
Main Methods:
- Candidate gene analysis
- Positional cloning
- Model organism analysis
- Proteomic analysis
Main Results:
- Ongoing research utilizing advanced molecular strategies is identifying novel PCD-associated genes.
- The study highlights the complex genetic architecture of PCD.
- Progress is being made in understanding the molecular mechanisms underlying ciliary function.
Conclusions:
- Identification of PCD genes offers new insights into cilia biology and embryogenesis.
- Advances in genetic discovery pave the way for improved diagnostic, preventive, and therapeutic strategies for PCD.
- Further research is crucial for a comprehensive understanding and management of PCD.
More Related Videos
Related Concept Videos
01:32Microtubule Associated Motor Proteins
Eukaryotic cells have different motor proteins for transporting various cargo within the cell. These motor proteins differ based on the filament they associate with, the direction they move within the cell, and the type of cargo they transport. Motor proteins that associate with microtubules are known as microtubule-associated motor proteins. There are two families of microtubule-associated motor proteins —Kinesins and Dyneins. Both these proteins assist in the transport of cellular cargos...
01:22Microtubules in Signaling
The primary cilium, made up of microtubules, acts as antennae on the cell surfaces for relaying external stimuli into the cells. These fine hair-like structures are present, generally one per cell. These are non-motile cilia in a 9+0 microtubules arrangement, where the central pair of microtubules are absent. The primary cilia arise from the basal body embedded in the cell membrane. Intraflagellar transport (IFT) carries requisite proteins from the cytoplasm to the cilium because the primary...
01:13Actin Polymerization and Cell Motility
Actin is a family of globular proteins that are highly abundant in eukaryotic cells. It makes up approximately 1-5% of total cell protein concentration. Actin monomers polymerize to form a complex network of polarized filaments, the actin cytoskeleton, that plays a crucial role in many cellular processes, including cell motility, division, endocytosis, and metastasis of cancer cells.
Actin cytoskeleton dynamics can produce pushing, pulling, and resistance forces that help the cell to migrate.
Actin cytoskeleton dynamics can produce pushing, pulling, and resistance forces that help the cell to migrate.
01:05Mechanism of Ciliary Motion
The ciliary structures were first seen in 1647 by Antonie Leeuwenhoek while observing the protozoans. In lower organisms, these appendages are responsible for cell movement, while in higher organisms, these appendages help in the movement of the extracellular fluids within the body cavities.
The cilia are made up of microtubules in a 9+2 arrangement, with nine microtubule doublet ring bundles, surrounding a pair of central singlet microtubule bundles. The doublet microtubule bundles are...
The cilia are made up of microtubules in a 9+2 arrangement, with nine microtubule doublet ring bundles, surrounding a pair of central singlet microtubule bundles. The doublet microtubule bundles are...
01:05Mechanism of Ciliary Motion
The ciliary structures were first seen in 1647 by Antonie Leeuwenhoek while observing the protozoans. In lower organisms, these appendages are responsible for cell movement, while in higher organisms, these appendages help in the movement of the extracellular fluids within the body cavities.
The cilia are made up of microtubules in a 9+2 arrangement, with nine microtubule doublet ring bundles, surrounding a pair of central singlet microtubule bundles. The doublet microtubule bundles are...
The cilia are made up of microtubules in a 9+2 arrangement, with nine microtubule doublet ring bundles, surrounding a pair of central singlet microtubule bundles. The doublet microtubule bundles are...
01:23Cystic Fibrosis: Pathogenesis
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...