Ribosomopathies: Many Questions and A Few Answers

Ribosomes are essential components of the protein synthesis machinery [1]. Ribosomes are large complex molecules [2] comprised of ribosomal RNA (rRNA), ribosomal proteins (RPs), and small nucleolar RNAs (snoRNAs) [3]. rRNA catalyzes peptide bond formation during protein synthesis; RPs optimize rRNA processing and stabilize the ribosome’s final structure; and snoRNAs primarily regulate chemical modifications of other RNAs [3]. RNA and protein are assembled into a functional, multi-subunit enzyme [2]. Ribosomes are universally responsible for the quality and quantity of proteins in all cells [4]. RPs has extra-ribosomal functions that are involved in cell proliferation, differentiation, apoptosis, DNA repair, and other cellular processes. A subset of RPs also acts as “watch guards” to detect the defects in ribosome biogenesis (the synthesis of the ribosome) [1].