Blinding Disease Has Similar Causation Gene in Humans and Canines

The cilia of mammals is the sensory organelle of our cells. Diseases that affect the cilia are called ciliopathies. A ciliopathy that causes both severe kidney disease and Leber congenital amaurosis, which is a blinding disease, is Senior-Løken Syndrome. The University of Pennsylvania researchers identified a dog with a similar blinding condition as Senior-Løken Syndrome. When the disease course was studied between human and canines, there were many similarities as well. The same gene was involved for both the human and the canine: NPHP5. An important observation from the dogs diagnosed with Senior-Løken Syndrome and humans diagnosed with the same ciliopathy is that despite functional vision during the day, the photoreceptor cells that function during daylight were still present. The cone cells were still preserved, but the rod photoreceptors were deteriorated. These cone cells, in both humans and canines, stayed preserved until very late in the course of the disease. NPHP5 was studied in the mutant canines and it was found that 33 other genes were affected by this mutation, some of which caused two other forms of retinal degeneration. However, unlike in humans where it can cause severe kidney disease when NPHP5 is the causation gene, the kidney structure and function was unaffected. This discovery is leading to the research of gene therapy for the mutant NPHP5 in canines, which will eventually lead to the advancement in gene therapy for humans with Senior-Løken Syndrome.

Finding connections between canine and human diseases is a reminder that we are all linked. I think that finding the causation gene NPHP5 and being able to test gene therapy in canines on that gene proves that animal models are a key role in furthering treatment and therapy of diseases. This is beneficial to the animals and to humans. Animal research is important, although sometimes an unpleasant topic to speak of, when we talk about furthering medical breakthroughs. Thinking of dogs as an animal model is hard for people because of their domestication as our household pets. However, humans and their pets are living longer, happier, and healthier lives due to the strives that animal models provide the biomedical field. This article interested me because the connection between animals and humans never fails to seize to amaze me on just how intertwined we are.

Source:

University of Pennsylvania. "Binding Disease In Canines and Humans Share Causative Gene, Pathology" ScienceDaily. ScienceDaily, 29 August 2016.

Colorblindness in Monkeys Cured

Researchers from Washington and Florida University used gene therapy to cure two squirrel monkeys of colorblindness. Colorblindness is very common in human beings, it affects about 3.5 million people in the US, 13 million people in India, and 16 Million people in China. Though colorblindness affects a large amount of people it is mostly found in men which causes them to be unable to distinguish red and green hues. Gene therapy is mostly used for disorders involving cone cells in adults which are vital for vision. With this information scientist decided to add red sensitivity to cone cells that were unable to or had difficulty picking up red colors. Once the red sensitivity was added to the monkeys cone cells the monkeys were than given similar colorblindness test that are given to humans, the color dotted circles with varying color and shaped dots inside. It took 5 weeks for the scientists start seeing improvement in the monkey color recognition, but when the monkeys began choosing the correct colors they were rewarded for their correct choice. With in one year the monkey were able to distinguish 16 different hues.

The biggest concern for researchers was how safely this procedure could be done in humans. Researchers from Florida University developed a gene transfer technique that used a non-harmful virus to assist in the transport of corrective genes to the desired protein location, they also wanted to use cone pigments that produce red and green in the retina. Researcher are also hoping that this gene therapy will be able to cure common types of blindness.

I choose to write about this article because I though it was interesting that researchers would fix colorblindness in monkeys and then use that information to help fix colorblindness in humans. I also read the article to find out if anyone who is colorblind said they would get the procedure done to fix their colorblindness.

http://phys.org/news172325926.html