The increasing amount of genetic research brings with it the danger of the domino effect. That is, changing one gene can have unforeseen effects on other genes and on health in general. One such gene is found in the human retina, and has long puzzled researchers due to the chain reaction it can set off when deactivated. A team of bioresearchers from the University of Southern California and the nearby Children’s Hospital Los Angeles has finally solved the puzzle and unraveled the domino effect behind this gene.
(Image courtesy Wikimedia Commons and aussiegail)
David Cobrinik, associate professor of ophthalmology at USC, was the principal investigator of the study. He and his team studied the gene RB1, which has been traditionally linked with the childhood retinal tumor retinoblastoma. If a child is born with a mutated RB1 gene, they have a much higher chance of developing retinal cancer. Similarly, tinkering with or deactivating the gene also increases the risk of cancer.
Cobrinik and the team found that the RB1 gene actually encodes a protein that suppresses tumors by limiting cell growth. Thus when it is deactivated, cells in the retina proliferate at an abnormal rate and a malignant tumor forms.
“These findings significantly advance our understanding of cancer, not only because they solve the retinoblastoma riddle, but also because they more generally imply that cancers can develop through the collaboration between a cancer-causing mutation — in this case, inactivation of the RB1 gene — and cell type-specific circuitry,” Cobrinik says in a USC press release.
Next up, the team is looking to use RB1 as a tumor suppressor in other ways. Funding for this study came in part from NIH grants. To read more about funding information at USC, read our free USC Funding Stats Report, available via the button below:
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