Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair

Asfia Soomro, Richard J. Alsop, Atsuko Negishi, Laurent Kreplak, Douglas Fudge, Edward R. Kuczmarski, Robert D. Goldman, Maikel C. Rheinstädter*

*Corresponding author for this work

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

Giant axonal neuropathy (GAN) follows an autosomal recessive genetic inheritance and impedes the peripheral and central nervous system due to axonal swellings that are packed with neurofilaments. The patients display a number of phenotypes, including hypotonia, muscle weakness, decreased reflexes, ataxia, seizures, intellectual disability, pale skin and often curled hair. We used X-ray diffraction and tensile testing to determine potential changes to the structure of keratin intermediate filaments (IFs) in the hair of patients with GAN. A statistically significant decrease in the 47 and the 27A diffraction signals were observed. Tensile tests determined that the hairwas slightly stiffer, stronger and more extensible in GAN patients. These results suggest that the structure of keratin IFs in hair is altered in GAN, and the findings are compatible with an increased positional disorder of the keratin tetramers within the hair fibres.

Original languageEnglish (US)
Article number20170123
JournalJournal of the Royal Society Interface
Volume14
Issue number129
DOIs
StatePublished - Apr 1 2017

Keywords

  • Giant axonal neuropathy
  • Human hair
  • Keratin intermediate filaments
  • Tensile testing
  • X-ray diffraction

ASJC Scopus subject areas

  • Biotechnology
  • Biophysics
  • Bioengineering
  • Biomaterials
  • Biochemistry
  • Biomedical Engineering

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