Aberrations in rRNA gene clusters can lead to various diseases. For instance, alterations in the number or structure of rRNA genes have been associated with cancer. Tumor cells often exhibit abnormal nucleoli, a phenomenon known as nucleolar hypertrophy. Furthermore, mutations in rRNA genes or in the proteins involved in rRNA processing can result in ribosomopathies, a group of disorders characterized by defects in ribosome biogenesis and function.
