Ribosomopathy

Ribosomopathies are a group of rare genetic disorders caused by mutations affecting ribosomes, the cellular structures responsible for producing proteins. Since proteins are essential for nearly all cell functions, defects in ribosomes can disrupt normal cell growth and development. These disorders often lead to specific health problems, like abnormal bone marrow function, increased risk of certain cancers, or developmental abnormalities. Despite ribosomes being found in all cells, ribosomopathies typically affect particular tissues or organs, highlighting how precise and complex the impact of ribosomal dysfunction can be.