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Related Experiment Videos

Structural and molecular hair abnormalities in trichothiodystrophy.

Christine Liang1, Andrea Morris, Sebastian Schlücker

  • 1DNA Repair Section, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892-4258, USA.

The Journal of Investigative Dermatology
|May 27, 2006
PubMed
Summary

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Trichothiodystrophy (TTD) causes brittle, sulfur-deficient hair due to multiple structural abnormalities. These changes increase hair breakage and susceptibility to weathering.

Area of Science:

  • Genetics
  • Biochemistry
  • Dermatology

Background:

  • Trichothiodystrophy (TTD) is a rare inherited disorder characterized by brittle, sulfur-deficient hair.
  • TTD presents with a spectrum of phenotypes, ranging from isolated hair abnormalities to severe intellectual and developmental impairments.

Purpose of the Study:

  • To investigate the structural and biochemical basis of hair brittleness in trichothiodystrophy.
  • To correlate hair shaft abnormalities with clinical severity and biochemical composition.

Main Methods:

  • Microscopic examination (polarizing, confocal, scanning electron microscopy) of hair samples from 15 TTD patients.
  • Analysis of hair sulfur content and Raman spectroscopy to assess disulfide bond conformation.
  • Correlation analysis between hair shaft abnormalities, sulfur content, and clinical phenotypes.

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Main Results:

  • TTD hairs exhibited characteristic "tiger tail" banding, surface irregularities, and internal breaks.
  • Reduced sulfur content was observed in all TTD hair samples, inversely correlated with the percentage of abnormal hairs (trichoschisis, trichorrhexis nodosa, ribbon/twist).
  • Raman spectroscopy revealed an increased presence of less stable disulfide conformers in TTD hair.

Conclusions:

  • Hair brittleness in TTD results from multi-level structural and biochemical abnormalities.
  • These alterations compromise hair integrity, leading to increased susceptibility to breakage and environmental damage.
  • No direct association was found between clinical disease severity and the percentage of abnormal hairs.