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Contact: Heather Dewar
University of Maryland


Caption: This is a model of ribosomopathy disease progression from anemia to cancer. A ribosomal mutation causes defective ribosomes to be produced. Due to the built-in quality control process, the majority of defective ribosomes carrying the mutation do not pass inspection. This leaves few ribosomes available for cells to use to produce required proteins, which causes anemia and bone marrow failure. A second gene mutation suppresses the quality control system, making more ribosomes available to cells. However, the available ribosomes are defective and cause changes in gene expression patterns that can result in on the onset of cancers, such as T-cell acute lymphoblastic leukemia.

Credit: Jonathan Dinman

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Related news release: Possible explanation for human diseases caused by defective ribosomes

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