Cancer Research Center identifies mechanism for rare blood diseases

Researchers at the Cancer Research Center, a collaboration between the Spanish National Research Council (CSIC), the University of Salamanca, and FICUS, have identified a common cellular mechanism in ribosomopathies. The study, published in ‘Nature Communications’, reveals that defects in the manufacturing of ribosomes lead to the accumulation of immature and defective pre-ribosomes within the cell nucleus.

Ribosomopathies are a group of rare hereditary diseases, such as Diamond-Blackfan anemia, caused by alterations in the production of ribosomes—the cellular structures responsible for protein synthesis. While these diseases can stem from mutations in various genes, they often share clinical symptoms like anemia, skeletal development issues, and an increased predisposition to cancer.

Previously, it was believed that the symptoms were primarily due to a reduction in the number of functional ribosomes. However, this new research led by Mercedes Dosil suggests that the presence of defective, incomplete pre-ribosomes resulting from missing proteins in the 40S subunit may also play a critical role in the pathology.