Scientists studying an inherited condition resulting in blindness and crumbling teeth have found a single defective gene can affect both eye function and normal tooth development.
A previously undiscovered and unexpected link between the formation of teeth and eyes has been uncovered by researchers from the University of Leeds, through studies in two families living in a village in the war-torn Gaza strip. The results were published in the American Journal of Human Genetics in a paper entitled “Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal recessive cone-rod dystrophy and amelogenesis imperfect”.
Funded by the Wellcome Trust and Yorkshire Eye Research, the project team sought to identify the cause of a condition they named Jalili syndrome, in which related individuals suffered loss of eyesight, almost from birth, and poorly developed teeth.
Chris Inglehearn, Professor of Molecular Ophthalmology at Leeds Institute of Molecular Medicine, said: “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.
“Genetic changes were found that disrupt 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.”
Prof. Inglehearn added that little is yet known about the role of this vital protein but it is possible that it is involved in transporting magnesium or calcium to cells in the body. Both minerals are known to be important in visual function and in teeth and bone formation.