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Photosensitive human syndromes

Graciela Spivak1, Philip C Hanawalt1

  • 1Department of Biology, Stanford University, Stanford, CA 94305, USA.

Mutation Research
|August 11, 2015
PubMed

Insights

Genetic defects in DNA repair cause photosensitivity, leading to DNA damage, mutations, and genomic instability. Some deficiencies increase cancer risk in sun-exposed areas, while others do not.

Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Background:

  • Photosensitivity arises from DNA repair defects, chemical photoactivation, or immune responses to sunlight.
  • Impaired DNA repair and processing can cause mutations and genomic instability.

Purpose of the Study:

  • To review the current understanding of photosensitivity to short-wavelength ultraviolet (UV) light.
  • To examine genetic defects in DNA repair pathways linked to photosensitivity.
  • To differentiate outcomes regarding cancer incidence in affected individuals.

Main Methods:

  • Literature review of genetic defects in DNA repair pathways.
  • Analysis of the relationship between DNA repair deficiencies and photosensitivity.
  • Comparison of cancer incidence in different photosensitive genetic conditions.

Main Results:

  • Photosensitivity is linked to genetic defects in specific DNA repair pathways.
  • Some DNA repair deficiencies result in a high incidence of skin cancer in sun-exposed regions.
  • Other DNA repair deficiencies associated with photosensitivity do not appear to increase cancer risk.

Conclusions:

  • Genetic defects in DNA repair are a significant cause of photosensitivity.
  • The clinical manifestation of photosensitivity, particularly cancer risk, varies based on the specific DNA repair pathway affected.
  • Further research into these pathways can inform preventative strategies and treatments for photosensitive individuals.
Keywords:
DNA repairGlobal genomic repairPhotosensitivitySkin cancerTranscription-coupled repair

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