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Bone Marrow Failure Syndromes: The Ribosomopathies

Arati Khanna-Gupta

In recent years a number of human diseases associated with dysregulated ribosome biogenesis have been identified and categorized as “ribosomopathies” [1]. Acquired or congenital genetic lesions leading to impaired ribosome biogenesis and function appear to be germane to this class of disorders that include Diamond-Blackfan anemia (DBA), a disorder characterized by pure red cell aplasia, Shwachman-Diamond syndrome (SDS), dyskeratosis congenita (DC), cartilage hair hypoplasia (CHH), Treacher Collins syndrome (TCS), and del (5q), a type of myelodysplastic syndrome (MDS). While each of these disorders is associated with distinct mutations in the ribosome biogenesis pathway (Figure 1), bone marrow failure appears to be a uniformly observed clinical symptom. However, the affected lineages appear to be uniquely syndrome-specific. For example, the erythroid and megakaryocytic lineages are affected in DBA and del (5q) MDS, while neutropenia predominates in SDS.