Alterations in the synthesis or functioning of ribosomal proteins can lead to various hematologic disorders and promote tumorigenesis through interactions with the p53 tumor suppressor pathway.
Ribosomes are essential components of the protein translation machinery and are composed of more than 80 unique large and small ribosomal proteins. Recent studies show that in addition to their roles in protein translation, ribosomal proteins are also involved in extra-ribosomal functions of DNA repair, apoptosis and cellular homeostasis. Consequently, alterations in the synthesis or functioning of ribosomal proteins can lead to various hematologic disorders. These include congenital anemias such as Diamond Blackfan anemia and Shwachman Diamond syndrome; both of which are associated with mutations in various ribosomal genes. Acquired uniallelic deletion of RPS14 gene has also been shown to lead to the 5q syndrome, a distinct subset of MDS associated with macrocytic anemia. Recent evidence shows that specific ribosomal proteins are overexpressed in liver, colon, prostate and other tumors. Ribosomal protein overexpression can promote tumorigenesis by interactions with the p53 tumor suppressor pathway and also by direct effects on various oncogenes. These data point to a broad role of ribosome protein alterations in hematologic and oncologic diseases.
Shenoy et al. (Mon,) conducted a review in Cancer and hematologic disorders (Ribosomopathies). Ribosomal machinery alterations was evaluated. Alterations in the synthesis or functioning of ribosomal proteins can lead to various hematologic disorders and promote tumorigenesis through interactions with the p53 tumor suppressor pathway.