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Mutations in the NF-kappaB signaling pathway: implications for human disease

G Courtois1, T D Gilmore

  • 1INSERM U697, Hôpital Saint-Louis, Paris, France.

Oncogene
|October 31, 2006
PubMed

Insights

Mutations in the nuclear factor-kappa B (NF-kappaB) pathway cause various diseases. This review details how NF-kappaB pathway genetic alterations contribute to inflammation, immunodeficiency, and cancer pathology.

Area of Science:

  • Molecular Biology
  • Genetics
  • Immunology

Background:

  • The nuclear factor-kappa B (NF-kappaB) signaling pathway is crucial for regulating genes involved in cell proliferation, survival, stress response, immunity, and inflammation.
  • Dysregulation of the NF-kappaB pathway is implicated in numerous human and animal diseases, particularly those linked to chronic inflammation, immunodeficiency, and cancer.

Purpose of the Study:

  • To review human diseases associated with mutations in core NF-kappaB signaling pathway components.
  • To discuss the molecular mechanisms by which these NF-kappaB alterations contribute to disease pathology.

Main Methods:

  • Review of human diseases linked to mutations in NF-kappaB pathway components.
  • Analysis of molecular mechanisms underlying NF-kappaB signaling alterations in disease.
  • Description of genetic diseases involving mutations in NF-kappaB modifiers, transducers, or regulatory elements.

Main Results:

  • Mutations in NF-kappaB pathway components, including germline and somatic alterations (amplifications, point mutations, deletions, translocations), are implicated in various human diseases.
  • Specific genes affected include REL, NFKB2, IKBA, CYLD, NEMO, and BCL-3.
  • Diseases can also arise from mutations affecting protein modifiers, signal transducers, or NF-kappaB binding sites.

Conclusions:

  • Genetic alterations in the NF-kappaB signaling pathway are significant contributors to human disease pathology.
  • Understanding these mutations is key to elucidating mechanisms of diseases involving inflammation, immunity, and cancer.
  • Further research into NF-kappaB pathway genetics can inform therapeutic strategies for related disorders.

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