Ciliopathies Flashcards
(38 cards)
What are the 2 types of cilia
Motile cilia and non motile cilia which is also called primary cilia

How can you differentiate between the 2 cilia
Motile cilia are found in bundles in one cell whereas primary cilia is found sungularly in one cell
Where are motile cilia found
They are found in the ventricles of the brain, in the respiratory tract, in the female reproductive tract and in the tail of the sperm.
The function of this cilia is to beat
What is the funciton of the primary cilia
They act like an antena and are responsible for receiving signals
Where does a cilium arise from? What is the organelle called
Mother centriole
Are primary cilia non motile structure
No. They have a phenomena inside them occuring called the intraflagellar transport. This builds and maintains cilia with the help of the kinesin and dyenins motor protiens
Is there a structural difference between primary and motile cilia
Yes. Motile cilia have microtubules arranged in a 9+2 fashion. Primary cilia have just the 9 tubules in the periphery. Refer to the image

What other features are in motile cilia that allow for efficient and effective movement
There are outer dyenin arms, innder dyenin arms and central micotubule pair (accounting for the +2 microtubule fashion). Refer to the attached image.

How many primary cilia are there in each cell
Only ONE
How does the primary cilia form
It forms from the basal body which is in turn formed from the modified mother centriole
Explain the structure of a primary cilium
It is protrudes from the basal body that appears to be an electron dense region. The protrusion of that makes most of the cilium is called an axoneme.
Kinesin and IFT complex B proteins are involved in transport to the plus end of the cilium which is at the periphery. IFT complex A proteins and dyenins are involved in retrograde transport to the minus end of the cilium. See the attached diagram.
Another component which we need to know is the transition zone which serves basically as a gate and determines what goes into the cilium. It is below the axoneme and above the basal body.

What is needed by the anterograde and retrograde transport in the cilium
It is important to know that IFT A proteins complex with dyenins for retrograde transport and IFT B proteins complex with kinesins for anterograde transport. These proteins work in complexes.
What are the name of the proteins associated with ciliary gate
Nephrocystins module proteins also called the NPHP and the MKS proteins
What protein is essential for cytoplasmic transport to the ciliary bodies?
Where does this protein transports stuff from that is directed to the transition zone?
The protein involved is called the BBSome. It transports stuff from the Golgi body to the ciliary gate.
What happens when the IFT proteins are defective
When IFT B is messed up we dont have any cilia.
When IFT A is mutant, cilia is swollen at the end.
When dyenin is mutant, this is more severe and we get hyperly swollen and short cilium

When does a cilium sprout
Only in the G1 or G0 phase
When does the cilium have to disassemble
Before the cell enters mitosis
What kind of signals can cilia process, there are 5.
- Flow/movement
- Morphogenesis
- Light
- Chemical signals
- Growth factors
Generally what kind of disease can we expect when the cilia are defective in a person
Cilia are ubiquituous so we can expect a range of diseases
Name the motile ciliopathy
Primary Ciliary Dyskinesia
It is a motile cilipoathy, it doesnt have anything to do with primary cilia
What organs will be affected by PCD
Lungs, heart and sperm
What are the symptoms of PCD
- Hydrocephalus (brain cant push the spinal fluid as the cilia doesnt beat as effectively)
- Respiratory abnormalities
- Infertility
- Laterality defects like situs inversus
- Congential Heart Defects
Why does primary or non motile ciliopathies have a range of broad symptoms as compared to PCD
Primary cilia are ubiquitous
What are the 2 diseases we should know that are associated with primary ciliopathies
Polycystic Kidney Disease and Von Hippel Lindau Syndrome
