The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders
- PMID: 23863123
- DOI: 10.3109/10428194.2013.812786
The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders
Abstract
More than a decade has passed since the initial identification of ribosomal protein gene mutations in patients with Diamond-Blackfan anemia (DBA), a hematologic disorder that became the founding member of a class of diseases known as ribosomopathies. In these diseases, genetic abnormalities that result in defective ribosome biogenesis cause strikingly tissue-specific phenotypes in patients, specifically bone marrow failure, craniofacial abnormalities and skeletal defects. Several animal models and numerous in vitro studies have demonstrated that the p53 pathway is central to the ribosomopathy phenotype. Additionally, there is mounting evidence of a link between the dysregulation of components of the translational machinery and the pathology of various malignancies. The importance of the role of ribosomal dysfunction in the pathogenesis of hematologic disorders is becoming clearer, and elucidation of the underlying mechanisms could have broad implications for both basic cellular biology and clinical intervention strategies.
Similar articles
-
Alterations in the ribosomal machinery in cancer and hematologic disorders.J Hematol Oncol. 2012 Jun 18;5:32. doi: 10.1186/1756-8722-5-32. J Hematol Oncol. 2012. PMID: 22709827 Free PMC article. Review.
-
Ribosomopathies: how a common root can cause a tree of pathologies.Dis Model Mech. 2015 Sep;8(9):1013-26. doi: 10.1242/dmm.020529. Dis Model Mech. 2015. PMID: 26398160 Free PMC article. Review.
-
Ribosomopathies: human disorders of ribosome dysfunction.Blood. 2010 Apr 22;115(16):3196-205. doi: 10.1182/blood-2009-10-178129. Epub 2010 Mar 1. Blood. 2010. PMID: 20194897 Free PMC article. Review.
-
Guarding the 'translation apparatus': defective ribosome biogenesis and the p53 signaling pathway.Wiley Interdiscip Rev RNA. 2011 Jul-Aug;2(4):507-22. doi: 10.1002/wrna.73. Epub 2011 Jan 20. Wiley Interdiscip Rev RNA. 2011. PMID: 21957040 Review.
-
Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy.Sci Rep. 2017 Sep 20;7(1):12010. doi: 10.1038/s41598-017-12307-5. Sci Rep. 2017. PMID: 28931864 Free PMC article.
Cited by
-
Yeast Kre33 and human NAT10 are conserved 18S rRNA cytosine acetyltransferases that modify tRNAs assisted by the adaptor Tan1/THUMPD1.Nucleic Acids Res. 2015 Feb 27;43(4):2242-58. doi: 10.1093/nar/gkv075. Epub 2015 Feb 4. Nucleic Acids Res. 2015. PMID: 25653167 Free PMC article.
-
Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation.Commun Biol. 2018 Jun 12;1:68. doi: 10.1038/s42003-018-0068-9. eCollection 2018. Commun Biol. 2018. PMID: 30271950 Free PMC article.
-
Dlk1 maintains adult mice long-term HSCs by activating Notch signaling to restrict mitochondrial metabolism.Exp Hematol Oncol. 2023 Jan 18;12(1):11. doi: 10.1186/s40164-022-00369-9. Exp Hematol Oncol. 2023. PMID: 36653853 Free PMC article.
-
Cytokinesis failure in RhoA-deficient mouse erythroblasts involves actomyosin and midbody dysregulation and triggers p53 activation.Blood. 2015 Sep 17;126(12):1473-82. doi: 10.1182/blood-2014-12-616169. Epub 2015 Jul 30. Blood. 2015. PMID: 26228485 Free PMC article.
-
Diagnosis of acute myeloid leukaemia on microarray gene expression data using categorical gradient boosted trees.Heliyon. 2023 Oct 4;9(10):e20530. doi: 10.1016/j.heliyon.2023.e20530. eCollection 2023 Oct. Heliyon. 2023. PMID: 37860531 Free PMC article.
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Research Materials
Miscellaneous
