Fig. 8. Ribosome and human diseases.

Abnormally active ribosome biogenesis is critical for cancer cell growth. The oncogene Myc upregulates rDNA transcription, activates RNA pol I-mediated 47S pre-rRNA synthesis, and induces the expression of RPL14 and RPL28 to stimulate ribosome biogenesis. In addition, Ncl enables cancer cells to differentiate and grow indefinitely by increasing the RNA Pol I activity. Blood diseases are associated with abnormal expression of RPs. RPL5/11 and RPS7/24 dysfunction and mutations in RPS19 activate p53, leading to a decline or even disappearance of erythroid cells, increasing the risk of malignant transformation. Ribosome dysfunction disrupts neuronal and glial homeostasis. Abnormal rDNA transcription affects the subsequent processing of 47S pre-rRNA into mature 5.8S, 18S, and 28S rRNA, disrupting rRNA synthesis and nucleolar integrity, and ultimately inducing neuronal cell death. Myc myelocytomatosis oncogene, Ncl nucleolin, rDNA ribosomal DNA, rRNA ribosomal RNA, RNA pol Ι RNA polymerase Ι