What’s Ciliopathy?

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Ciliopathy is a broad category of disorders resulting from defective function of the cilia, which are the microscopic filament-like structures that line the surface of most, if not all, cells in the human body. The disorders are said to be genetic, as they are the result of some abnormality or mutation in a certain chromosome or gene. This also means they can be passed down from one generation to the next. Some disorders under ciliopathy are Alström syndrome, nephronoptysis, and primary ciliary dyskinesia (PCD).

The cilium, or cilia in its plural form, was discovered in the late 1800s, but its importance was underestimated, probably due to its tiny size and external placement on the cella. Modern research, however, has shown that the existence of cilia is indeed necessary for the organs to function properly. Moving or mobile type cilia, for example, help the respiratory system filter the air so the body doesn’t breathe in a lot of irritants. The primary or non-motile cilia, on the other hand, act as a “signal transmitter” for the kidney to “tell” the body that urine will be released. Faulty eyelashes, therefore, would result in ciliopathy disorders which can compromise a patient’s quality of life and can even put her life at risk.

Of the many organs in the body, the most commonly affected by ciliopathy are the eyes, kidneys, and liver. In some cilliopathic disorders, all three organs are affected, along with the brain. One example is nephronoptysis, in which the mutated cilia cannot detect the “signal” to stop the cells from multiplying, so kidney cysts form. The primary symptoms of nephronoptysis are excessive urination and water intake, while some associated or “extra-renal” symptoms are progressive blindness, excess tissue in the liver, and mental retardation.

Another type of ciliopathy is Alström syndrome, a very rare condition involving primary organs such as the heart, liver and lungs. It is congenital and affects the patient from birth and can sometimes result in death in infancy. Defective cilia located in primary organs cause weakness and general enlargement of the heart, decreased kidney and liver function, and obesity. Some patients may also experience photosensitivity in their eyes, leading to worsening vision in early adulthood.

Many diseases classified as ciliopathy are rare and therefore have yet to be extensively studied and researched for treatment and management options. For example, only about 700 cases of Alstrom’s syndrome have been documented worldwide since its discovery in 1959. Further studies, however, have led scientists and doctors to believe that ciliopathy can affect one in 1,000 people.

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