Mutations Effects on Cilium

Two teams of researchers from the Baylor College of Medicine have found a way to make a three-dimensional map that can be used to better understand how the structure of the cilium can be disrupted by genetic mutations. The cilium is a type of photoreceptor in the eye and it helps transports proteins during the light-sensing process. Cilia are a very important component for most mammalian cells. "They play a central role in cellular operations, and when they are defective because of genetic mutations, people can go blind, have cognitive defects, develop kidney disease, grow too many fingers or toes or become obese." The three-dimensional design that these researchers were able to develop was discovered by studying three mice known to have ciliopathies (a disease in the cilium). Researchers used cyro-electron tomography to compare rod structures in the outer structure in healthy mice to the ones that had these ciliopathies. The three-dimensional structure that they were able to create showed that there are vesicles tethered to membrane filaments. Further studies on a specific disease known as Bardet Biedl Syndrome showed that, "...aberrant trafficking of proteins is responsible for photoreceptor degeneration." This degeneration is what could be responsible for many cilial diseases.



Overall, I found this information to be very interesting. It was good to know that many diseases in people can be caused due to a genetic mutation in such a small body part. I would hope that this new found information would be able to help scientists develop ways to better identify those individuals that may have these kinds of mutations and ultimately be able to develop treatments for these diseases as well.