It sounds like the plot of a science fiction thriller but the events are all too real. Dental implants Cleveland said scientists have found a defective gene that causes a strange disease characterized by blindness and tooth decline at the same time.
The defective gene is responsible for Jalili Syndrome, a rare condition that leads to loss of eyesight at birth and poorly developed teeth. It was discovered by researchers from the University of Leeds in the United Kingdom after studying two families living in the war-torn Gaza strip. The study was funded by the Wellcome Trust and Yorkshire Eye Research. The disease is named after one of the researchers, Ismail Jalili, who traveled on a regular basis to the war zone to enrol subjects for the study.
“What interested us was the idea that there might be a single process or protein essential in both teeth and eyes, not something you’d normally think of as having much in common,” said Chris Inglehearn, professor of Molecular Ophthalmology at Leeds Institute of Molecular Medicine.
“Working with colleagues in the Leeds Dental Institute, genetic changes were discovered that interupt the function of a protein called CNNM4 and that are passed on from one generation to the next in these families. This protein is present in the cells that lay down tooth enamel and also in the various layers of the retina, the light sensitive ‘film’ at the back of the eye,” he added.
While little is known about this protein, Inglehearm believes it transports calcium and magnesium to body cells. These minerals are mandatory for proper optic function and teeth and bone formation.
At present, researchers are looking for ways to overthrow this process through gene replacement therapy. However, they admit that a lot of work has to be done and the treatment would have to be applied shortly after birth.
“Although a rare condition, Jalili syndrome sufferers from France, Scotland, Iran, Bosnia and Guatemala were also studied. Further research could help scientists gain a better understanding of more common forms of blindness, weak teeth and bone diseases such as osteoporosis, and in time may lead to better treatments,” reported ScienceDaily.Com.
“The findings of this research are surprising but will give doctors and scientists a greater understanding of the causes of genetic blindness and may identify novel treatments in the time to come,” concluded Martin McKibbin, consultant ophthalmologist at St James University Hospital and chairperson of Yorkshire Eye Research.