A Jackson Laboratory research team, working in collaboration with researchers at Brigham and Women’s Hospital and Harvard Medical School in Boston, show that RNA granules–key players in messenger RNA (mRNA) processing–can affect eye development, leading to juvenile cataracts in humans and mice.
The research, published in the March 25 issue of Science, also demonstrates the first connection between RNA granules and glaucoma, as the humans and mice in the study developed glaucoma.
In the laboratory of Jackson Professor and Howard Hughes Medical Institute Investigator Simon John, Ph.D., study coauthors Stephen Kneeland, Ph.D., and Gareth Howell, Ph.D., identified a malfunctioning gene in a mouse strain that develops both cataracts and glaucoma. The gene, Tdrd7, fails to build an essential protein and disrupts the development of the mouse eye lens. Mice missing the protein developed high intraocular pressure and optic nerve damage–the hallmarks of glaucoma–as well as cataracts.