After spending hours upon hours staring at a computer screen doing homework, I decided to steer away from my work and engage in aimless internet activity. This probably wasn't a good idea at the time but little did I know I would be lead to a link that would be productive for my blog this week.
I typically go on Tumblr or Pinterest and scroll through pages of nothing. I follow many science related blogs so I'd like to think I get a good daily dosage of educational content. One link lead to another and I came across a recent news article posted yesterday that was rather interesting. The article, which can be accessed here, spoke of a research conducted by Steve Caplan Ph.D. , UNMC researcher, who was studying cilia and their effects on human development. He discovered that cilia are used in monitoring the environment surrounding the cell as a way to monitor and stabilize signals sent to the cell in order to control tissue development. In some cases, disorders occur where the development of certain cells and features are disturbed. These disorders are known as ciliopathies.
After reading this article, I became interesting in this type of disorder and felt I needed to learn more about it. I was intrigued about how small something can be, such as cilia which are microscopic filaments on a cell, and still cause a world of chaos when something goes wrong with them.
Ciliopathies are disorders characterized as as genetic mutation which encodes for proteins that are defective. This causes abnormal formation and functions of the cilia. These abnormalities in in kidneys, eyes, nervous system and other systems of the body. This disease may also lead to greater deficiencies such as diabetes, skeletal malformation, and liver problems (Waters & Beales, 2011).
Over 20 known ciliopathic diseases are known to this day with 1 in 1000 people effected. The studies that the doctor was conducting will hopefully provide insight on the complete function and interactions which cause disease such as this (Ciliopathy Alliance, 2014). The purpose of his study is to hopefully come up with a solution to ciliopathic diseases and a way to treat those who are effected by them.
Before seeing this article, I did not know this type of disease existed. Again, the cilia is such a small part of a cell. Initially, I knew it functioned in the interaction between the cell and its environment as well as some cases for movement. Never did I think that it would be the cause of many diseases that I know today.
For more information on the topic, the Ciliopathy Alliance has an extensive website with much information on the subject and can be accessed here.
References
Waters, A., & Beales, P. (2011, January 6). Ciliopathies: An expanding disease spectrum. Retrieved February 27, 2015, from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098370/
Welcome to the Ciliopathy Alliance. (2014, January 1). Retrieved February 27, 2015, from http://www.ciliopathyalliance.org/
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