This is one of those discoveries where our team was in the right place at the right time and we ran with a hunch, says Gustavo Leone, a geneticist at The Ohio State University Comprehensive Cancer Center-Arthur G. James Cancer Hospital and Richard J. Solove Research Institute and senior author of the study.
Twenty years ago, the Rb gene was the first to be identified as a tumor suppressor gene meaning when it functions normally, it is able to keep cells from growing out of control. Scientists believe it is a critical player in the cell cycle, turning on and off at key stages in cell division. It is also believed to be linked to two key processes that frequently malfunction when cancer begins proliferation (cell growth), and apoptosis (cell death).
There is some sort of problem in the Rb pathway in virtually every cancer we know, says Leone.
Although Rb mutation is most readily linked with retinoblastoma, Leone and his colleagues had been following its impact in laboratory animals. Scientists have known for several years that mice with two defective Rb genes invariably develop massive neural and structural problems and die half way through their gestational period. But the question has always remained: why those particular defects? What was going on?
As it turns out, the answer eluded them because they had simply been looking in the wrong place.
Writing in the February 27 issue of Nature, Leone and colleagues from the United States and Canada demonstrated that fetal death is actually due to mutation-induced structural cha
Contact: Michelle Gailiun
Ohio State University