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Published on: April 8, 2018
Ribosomopathies: human disorders of ribosome dysfunction
Anupama Narla1, Benjamin L Ebert
1Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Blood
|March 3, 2010
Summary
Ribosomopathies are genetic disorders affecting ribosome biogenesis, causing conditions like Diamond-Blackfan anemia. Understanding these ribosome defects may lead to new treatments for related diseases.
Area of Science:
- Genetics
- Molecular Biology
- Medicine
Background:
- Ribosomopathies are a group of disorders characterized by impaired ribosome biogenesis and function due to genetic abnormalities.
- These conditions manifest in specific clinical phenotypes, including Diamond-Blackfan anemia, Schwachman-Diamond syndrome, and 5q- syndrome.
- Acquired ribosome dysfunction is also linked to human malignancies, highlighting the broad impact of ribosome integrity.
Purpose of the Study:
- To explore the mechanisms underlying selective abnormalities in ribosome biogenesis.
- To understand how these abnormalities lead to specific clinical syndromes.
- To identify potential novel therapeutic strategies for ribosomopathies.
Main Methods:
- Review of genetic mutations affecting ribosomal protein genes (e.g., RPS19, RPS14).
- Analysis of the role of the p53 pathway in response to ribosome biogenesis defects.
- Comparison of clinical phenotypes associated with different ribosomopathies.
Main Results:
- Congenital mutations in ribosomal protein genes cause disorders like Diamond-Blackfan anemia and other rare syndromes.
- Somatic deletions, such as in the 5q- syndrome, lead to haploinsufficiency of ribosomal proteins and distinct phenotypes.
- The p53 pathway is activated by ribosome biogenesis defects and mediates key clinical features of ribosomopathies.
Conclusions:
- Ribosome biogenesis defects are central to a spectrum of human diseases.
- The p53 pathway plays a crucial role in the pathogenesis of ribosomopathies.
- Further elucidation of these mechanisms is essential for developing targeted therapies.
Related Concept Videos
01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
02:18Alternative RNA Splicing
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
02:24Ribosome Profiling
Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
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The technique helps...
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Ribosome synthesis is a highly complex and coordinated process involving more than 200 assembly factors. The synthesis and processing of ribosomal components occurs not only in the nucleolus but also in the nucleoplasm and the cytoplasm of eukaryotic cells.
Ribosome biogenesis begins with the synthesis of 5S and 45S pre-rRNAs by distinct RNA polymerases. The primary transcripts are extensively processed and modified before they are bound and folded by ribosomal proteins and assembly factors,...
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02:53Ribosomal RNA Synthesis
Ribosome synthesis is a highly complex and coordinated process involving more than 200 assembly factors. The synthesis and processing of ribosomal components occurs not only in the nucleolus but also in the nucleoplasm and the cytoplasm of eukaryotic cells.
Ribosome biogenesis begins with the synthesis of 5S and 45S pre-rRNAs by distinct RNA polymerases. The primary transcripts are extensively processed and modified before they are bound and folded by ribosomal proteins and assembly factors,...
Ribosome biogenesis begins with the synthesis of 5S and 45S pre-rRNAs by distinct RNA polymerases. The primary transcripts are extensively processed and modified before they are bound and folded by ribosomal proteins and assembly factors,...