Tracking down cause of eye mobility disorder

Could you imagine having a permanent downward gaze and having to tilt your head up in order to see directly in front of you? A condition known as eye mobility disorder causes a person to not be able to lift up their eyes or eyelids in order to see straight. Scientists at the University of Iowa have been performing experiments on mice that would mimic what would happen in humans, in order to help eliminate this disease. About ten years ago, Elizabeth Engle, one of the authors of this paper, identified the mutated genes that cause eye mobility disorder, and she then developed a mouse with the same genes. However, it was still unknown why this type of disorder occurred. Other researchers started to look into this disease and found a swelling in one of the nerves that goes to the eye muscles, which only occurred in mutant mice. Therefore, with further experiments involving normal and mutated mice, the scientists were able to identify the mutated protein and its function.

                I found this article to be very interesting, because it is the start to finding a cure for this disease. As the article states, future research on this topic will hopefully help families with a genetic predisposition for this disease to be able to have normal children without the mutation.

Article: http://www.sciencedaily.com/releases/2014/04/140416162636.htm

Related Article: http://www.ncbi.nlm.nih.gov/pubmed/8771514