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The Nucleolus and Its Associated Pathologies.

Marvin J Menjivar-Vallecillo1,2, Nadia V Padilla-Claros1,2, Pilar Gavarrete-Garrido1,2

  • 1GIMUNICAH, Faculty of Medicine, Pontificia Universidad Católica de Honduras, San Pedro Sula, Honduras.

Wires Mechanisms of Disease
|September 8, 2025

View abstract on PubMed

Summary
This summary is machine-generated.

The nucleolus, vital for ribosome production, also impacts cellular stress and diseases like cancer and autoimmune disorders. Dysfunctional nucleoli disrupt cell balance, immunity, and protein synthesis, contributing to various pathologies.

Keywords:
cell nucleolusdiseasemicroRNAsnucleolinribosomes

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Area of Science:

  • Cell Biology
  • Molecular Physiology
  • Pathology

Background:

  • The nucleolus is traditionally recognized for ribosome biogenesis.
  • Emerging evidence highlights its roles in cellular stress adaptation and disease pathogenesis.
  • Nucleolar dysfunction is implicated in diverse conditions, including cancer, autoimmune disorders, and aging.

Purpose of the Study:

  • To review and categorize nucleolus-associated diseases.
  • To elucidate the multifaceted roles of the nucleolus in health and disease.
  • To underscore the importance of nucleolar function in cellular homeostasis and human pathologies.

Main Methods:

  • Literature review and synthesis of current research on nucleolar function and disease.
  • Classification of nucleolus-associated diseases into distinct categories.
  • Analysis of the molecular mechanisms linking nucleolar alterations to pathological processes.

    • Main Results:

    • Nucleolar dysfunction impairs protein synthesis, cellular homeostasis, and immune responses.
    • Nucleolus-associated diseases are categorized into seven groups, including protein synthesis deficiencies, ribosomal alterations, cancer, aging/stress-related diseases, autoimmune diseases, and viral diseases.
    • Disruptions can lead to multisystem disorders and increased cancer susceptibility.

    Conclusions:

    • The nucleolus plays a critical role beyond ribosome biogenesis, influencing cellular adaptation and disease.
    • Understanding nucleolar complexity is crucial for deciphering the molecular basis of human diseases.
    • Further research into nucleolar dysfunction will advance cell biology and disease pathology knowledge.