• Question: what are ciliopathies?

    Asked by anon-252548 on 30 Apr 2020.
    • Photo: Alena Pance

      Alena Pance answered on 30 Apr 2020:

      Cilia are tiny ahirlike protrusions that extend from the surface of many types of cells in most organims. Their function is to move fluid over the surface of the cells or to propel cells through fluid. For example the cells of the lining in the respiratory tract are covered by huge numbers of cilia that move mucus with all the trapped dust and dead cells towards the mouth so that they can be eliminated. They also serve a signal receptors that communicate to the cell cues from the envirnoment. Ciliopathies are diseases characterisde by defects in cilia or in their function. There are several of these diseases that are generally quite complex, often affecting the respiratory system and the kidneys.

    • Photo: Rachel Tanner

      Rachel Tanner answered on 30 Apr 2020:

      The word ‘cilia’ comes from the Latin for ‘eyelash’ because that’s what they look like sticking out of the surface of cells (under a microscope!) They’re found in places like the respiratory tract and wave around to sweep away things that shouldn’t be there.

      Ciliopathies are disorders that result from the cilia not working properly, and they’re caused by mutations in certain genes. Depending on the particular ciliopathy, they can affect the kidneys, the eyes, the skeleton and even the brain. They can make it difficult for the person to sense touch, hearing, balance, pain or temperature because cilia play an important role in these processes.

    • Photo: Laura Devlin

      Laura Devlin answered on 30 Apr 2020: last edited 1 May 2020 9:38 am

      Wow what a great question. This is my field of work, that I find soo interesting! Ciliopathies are a term for a group of genetic diseases, caused by defects in a persons cilia. Now interestingly there are two main types of cilia. One is the primary cilia, these are found on nearly every cell in the human body. They stick out of the cell, all by themselves, a bit like a single antenna of a radio, and they are very important for detecting chemical and mechanical signals. For example detecting the force of the fluid moving through the nephrons of the kidney, or the detecting chemical signals like proteins from other cells. They are also important in sending signals to other cells. This means that they are key during development, but also for day-to-day function. Therefore when cilia goes wrong you can get lots of problems, for example cysts in the kidneys, blindness caused by retinal degeneration, neurological abnormalities and even skeletal problems, like polydactly, which is where you an abnormal number of digits. In some severe cases you can get things like situs inversus, where our bodies natural left right axis is flipped the other way! If only some organs have to flipped, then this can cause major major issues. What we find soo interesting in primary ciliopathies is we don’t fully understand how different faults in the cilia lead to varying types of disease, with differences in tissues affected and the severity. Also patients can have the exact same genetic mutation in a ciliary gene, but have very different pathology. These are lots of things we need to unravel!

      Another type of cilia is the motile cilia. This is cilia which lines your lungs, and beats as a group. It moves things like mucus and debris that you normally breathe in, clearing your airways. The sperm tail is also thought to be a specialised motile cilium. Therefore when people have faults with their motile cilium you can get respiratory problems and be prone to respiratory infections, as well as experience fertility issues, amongst other problems.

      What I find amazing about studying ciliopathies is that is doesn’t restrict you to studying one organ, I can look at the whole body! It’s also a relatively new field in scientific research (until recently primary cilia weren’t thought to do much!). So it means there is lots to find out that we don’t know. We also do not have a curative treatment yet, so that is why research is soo important!

      I hope this has given you an insight into the world of ciliopathies. Please ask more questions if you would like to know more!

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