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Diverse diseases from a ubiquitous process: The ribosomopathy paradox
Author(s) -
Armistead Joy,
Triggs-Raine Barbara
Publication year - 2014
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/j.febslet.2014.03.024
Subject(s) - ribosome biogenesis , translation (biology) , biology , pi3k/akt/mtor pathway , biogenesis , genetics , ribosome , computational biology , bioinformatics , messenger rna , signal transduction , rna , gene
Collectively, the ribosomopathies are caused by defects in ribosome biogenesis. Although these disorders encompass deficiencies in a ubiquitous and fundamental process, the clinical manifestations are extremely variable and typically display tissue specificity. Research into this paradox has offered fascinating new insights into the role of the ribosome in the regulation of mRNA translation, cell cycle control, and signaling pathways involving TP53, MYC and mTOR. Several common features of ribosomopathies such as small stature, cancer predisposition, and hematological defects, point to how these diverse diseases may be related at a molecular level.