Ribosomopatier

Ribosomopatier, or ribosomopathies, are a heterogeneous group of inherited human disorders that arise from defects in ribosome biogenesis or function. The ribosome, the cellular machinery for protein synthesis, is composed of ribosomal RNA and numerous ribosomal proteins encoded by over a hundred genes. Mutations or dysregulation in any of these components can impair ribosome assembly, leading to reduced protein production and increased cellular stress. Ribosomopatier exhibit a range of clinical features that reflect the essential role of ribosomes in growth, hematopoiesis, and tissue maintenance.

Common ribosomopathies include Diamond‑Blackfan anemia, Shwachman‑Diamond syndrome, 5q‑associated myelodysplastic syndrome, Treacher‑Collins syndrome, and dyskeratosis congenita. Symptoms often involve bone‑marrow failure manifested by anemia, leukopenia or thrombocytopenia, growth retardation, craniofacial abnormalities, skeletal defects, and predisposition to malignancy. Molecular diagnoses rely on sequencing of ribosomal protein genes, functional assays of ribosome assembly, and cytogenetic studies, particularly in cases involving chromosomal deletions such as the 5q syndrome. Treatment strategies are disease‑specific: supportive care for anemia with transfusions or erythropoietin, hematopoietic stem‑cell transplantation for severe marrow failure, and targeted therapies for associated myelodysplastic syndromes. Emerging research explores the use of small molecules that modulate ribosomal function, antisense oligonucleotides to correct splicing defects, and gene‑editing techniques.

The ribosomopathy field illustrates how universal cellular processes can, when perturbed, lead to highly tissue‑specific defects. Continued investigation into ribosome biology and its dysregulation holds promise for novel diagnostics and therapeutic interventions across this diverse set of disorders.