Retinoblastoma is said to be a pediatric eye cancer instigated by the loss or mutation of both copies of the retinoblastoma gene.
Existing proof appears to propose that supplementary genetic modifications may be needed for retinoblastoma to turn completely malignant. Scientists operating at the Sbarro Institute for Cancer Research and Molecular Medicine at Temple University in Philadelphia, PA and at the University of Siena in Siena, Italy have apparently thrown light on the probable function of inactivation of the 16INK4A gene in the development of retinoblastoma.
Study authors apparently chose to examine the 16INK4A gene owing to its supposed function in the growth of retinoblastoma, in addition to its participation in a tendency to familial cancer.
“The finding that the expression of p16INK4A was reduced both in patients and their parents in our samples suggests that this alteration could be a novel marker of an inheritable susceptibility to retinoblastoma in young patients,” commented, Antonio Giordano, M.D Ph.D., director of the Sbarro Institute and the Center for Biotechnology at Temple, as well as a lead author of the study.
The study supposedly evaluated blood samples extracted from around 29 patients and their parents. They seem to have discovered low to moderate 16INK4A protein expression in 5 of 11 retinoblastoma tumor samples. They also apparently found decreased p16INK4a RNA expression in blood, linked to the demethylation, or drop, of the p16INK4a gene, in 16 of 29 of retinoblastoma patients comparative to standard controls.
Joan O’Brien, Chair of the Department of Ophthalmology at the University of Pennsylvania and Director of the Scheie Eye Institute, mentioned, “Intriguingly, they also found reduced expression in at least one parent among 9 of the 16 (56%) patients with reduced p16INK4a RNA expression, which Dr. Giordano and his coworkers suggest could represent a marker for retinoblastoma susceptibility.”
The expert further added that confirmation of this theory by upcoming studies could augment their comprehension of genetic and epigenetic events adding to this disease.
The study was published in the Journal of Cellular Physiology.