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Molecular etiology of defective nuclear and mitochondrial ribosome biogenesis: Clinical phenotypes and therapy

Maria Sona Jerome1, Dechamma Pandyanda Nanjappa2, Anirban Chakraborty2

  • 1Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India.

Biochimie
|November 6, 2022
PubMed

Insights

Ribosomopathies, caused by faulty ribosome biogenesis, lead to impaired protein synthesis and tissue-specific diseases. This review covers genetic defects, pathways, and treatments for nuclear and mitochondrial ribosome disorders.

Area of Science:

  • Molecular Biology
  • Genetics
  • Cell Biology

Background:

  • Ribosomopathies are rare congenital disorders stemming from defective ribosome biogenesis.
  • Pathogenic variations in ribosome-related genes disrupt protein synthesis and trigger nucleolar stress via TP53.
  • While ribosomes are essential, ribosomopathies often manifest with tissue-specific phenotypes.

Purpose of the Study:

  • To review clinical conditions linked to defective nuclear and mitochondrial ribosome biogenesis.
  • To describe the genes and pathways implicated in these disorders.
  • To provide an overview of current treatment strategies.

Main Methods:

  • Literature review of clinical conditions associated with ribosome biogenesis defects.
  • Analysis of genetic variations and affected pathways.
  • Summary of existing therapeutic approaches.

Main Results:

  • Defective ribosome biogenesis underlies a spectrum of ribosomopathies with varied clinical presentations.
  • Nuclear and mitochondrial ribosome defects impact different organ systems and are linked to malignancies.
  • Specific genes and pathways are identified as crucial in the pathogenesis of these disorders.

Conclusions:

  • Understanding ribosome biogenesis defects is key to diagnosing and treating ribosomopathies.
  • Targeting affected pathways offers potential therapeutic avenues.
  • Further research is needed to develop effective treatments for these complex genetic disorders.
Keywords:
Diamond-Blackfan anemiaMELASMitochondriaRibosomeRibosomopathies

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