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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...
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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.
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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...
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Microtubules are thick hollow cylindrical proteins that help form the cytoskeleton. Microtubules have varied roles in the cell. These filaments help form cellular appendages like cilia and flagella, which are responsible for locomotion. The cilia arise from basal bodies, separated from the main body by a membrane-like structure forming the transition zone. This zone is the gate for the entry of lipids and proteins, creating a unique composition of lipids and proteins in the ciliary membrane and...
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Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
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Motile ciliopathies.

Julia Wallmeier1, Kim G Nielsen2,3, Claudia E Kuehni4,5

  • 1Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.

Nature Reviews. Disease Primers
|September 18, 2020
PubMed
Summary
This summary is machine-generated.

Motile ciliopathies are rare genetic disorders affecting cilia, leading to conditions like hydrocephalus, infertility, and primary ciliary dyskinesia. Diagnosis requires multiple tests, and treatment focuses on symptom relief.

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Area of Science:

  • Cell Biology
  • Genetics
  • Rare Diseases

Background:

  • Motile cilia are crucial organelles in various tissues.
  • Genetic mutations impairing ciliary function cause motile ciliopathies.
  • These disorders manifest with diverse symptoms depending on affected genes and tissues.

Purpose of the Study:

  • To summarize the current understanding of motile ciliopathies.
  • To highlight the pathogenetic mechanisms, clinical manifestations, and diagnostic approaches.
  • To discuss the limited therapeutic options available.

Main Methods:

  • Review of literature on motile cilia and ciliopathies.
  • Analysis of genetic mutations, pathogenetic pathways, and clinical presentations.
  • Compilation of diagnostic methods and current treatment strategies.

Main Results:

  • Motile ciliopathies encompass conditions like hydrocephalus, infertility, laterality defects, and primary ciliary dyskinesia.
  • Diagnosis is complex, relying on a combination of tests including genetic analysis and microscopy.
  • Current treatments are largely supportive, with azithromycin being an exception for primary ciliary dyskinesia.

Conclusions:

  • Motile ciliopathies represent a significant group of rare genetic disorders with varied clinical outcomes.
  • Accurate diagnosis requires a multidisciplinary approach.
  • Further research is needed to develop effective, evidence-based treatments.