![Ribosomal Proteins and Rare Diseases]()
Ribosomes are the cells’ factories for producing proteins. Diseases such as the genetic blood disorder Diamond-Blackfan Anemia are caused by defects in ribosomal proteins that were thought to impair ribosome function. But new findings involving fruit flies, published online on August 2 in Developmental Cell by Nicholas E. Baker, Ph.D., and colleagues, indicate that ribosomal protein defects actually activate a previously unknown and destructive signaling pathway. Although it’s unclear just why this pathway exists, Dr. Baker and colleagues speculate that it may help rid the body of damaged cells. The findings may shed light on how damaged cells lead to disease, as well as aspects of Diamond-Blackfan Anemia that might provide new avenues for treatments. Dr. Baker is professor of genetics, of developmental and molecular biology and of ophthalmology and visual sciences and the paper’s corresponding author. Dr. Baker also holds the Harold and Muriel Block Chair in Genetics.
Posted on: Thursday, August 23, 2018