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Supplementary material from "Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair"

Posted on 2017-04-05 - 10:09
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 of the 47 and the 27 Å diffraction signals were observed. Tensile tests determined that the hair was 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.

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Journal of the Royal Society Interface

AUTHORS (8)

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