Read more: 鈥�Instant Expert 36: Human cell tails鈥�
In less than two decades, our view of our inner tails has been totally transformed. They have gone from being seen as minor players in a few tissues to playing a central role in the development and maintenance of just about every part of the body.
To date, about 30 disorders have been traced to mutations that affect the function of our cilia and flagella. With the exception of polycystic kidney disease, these ciliopathies are rare, affecting fewer than 1 in 2000 people. However, it is quite likely that the causes, at least in part, of some common diseases will also turn out to involve cilia. It may be that subtle variations in the genes that code for the building blocks of cilia contribute to these more common and familiar conditions.
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For instance, cilia located on specialised neurons are important for the regulation of appetite, and severe obesity is one of the features of ciliopathies such as Bardet-Biedl syndrome and Alstrom syndrome. Although the precise cause of the obesity associated with these syndromes is still being investigated, there is nothing to suggest that this type of obesity is any different from more common forms that have reached epidemic proportions in Western society. Genetic studies also suggest that some cilial gene variants may be associated with obesity. To give another example, cilia located on cartilage in joints could be important for maintaining joint integrity and preventing arthritis.
Cilia may also play a role in some kinds of cancer and conditions that can lead to cancer, such as von Hippel-Lindau and Birt-Hogg-Dub茅 syndromes. As we have mentioned, the 鈥渉edgehog signalling system鈥�, so important during development, involves cilia. And it is these pathways that are disturbed in certain types of cancer, including medulloblastoma, pancreatic cancer and basal cell carcinoma. Although further work is required, cilia biology may yet provide important therapeutic opportunities for these types of tumour.
This article appeared in print under the headline 鈥淎 cause of common diseases?鈥�
