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 language | English (US) |
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Article number | 20170123 |
Journal | Journal of the Royal Society Interface |
Volume | 14 |
Issue number | 129 |
DOIs | |
State | Published - Apr 1 2017 |
Funding
This research was funded by the Natural Sciences and Engineering Research Council of Canada (NSERC), the National Research Council Canada (NRC), the Canada Foundation for Innovation (CFI) and the Ontario Ministry of Economic Development and Innovation. R.J.A. is the recipient of an NSERC PGS-D.
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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Dive into the research topics of 'Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair'. Together they form a unique fingerprint.Datasets
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Supplementary material from "Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair"
Soomro, A. (Contributor), Alsop, R. J. (Creator), Negishi, A. (Creator), Kreplak, L. (Creator), Fudge, D. (Creator), Kuczmarski, E. R. (Creator), Goldman, R. D. (Creator), Rheinstädter, M. C. (Creator) & Goldman, R. (Creator), figshare, 2017
DOI: 10.6084/m9.figshare.c.3734386, https://figshare.com/collections/Supplementary_material_from_Giant_axonal_neuropathy_alters_the_structure_of_keratin_intermediate_filaments_in_human_hair_/3734386
Dataset
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Giant Axonal Neuropathy alters the structure of keratin intermediate filaments in human hair_JRSocInterface_TensileSummary
Soomro, A. (Contributor), Alsop, R. J. (Creator), Negishi, A. (Creator), Kreplak, L. (Creator), Fudge, D. (Creator), Kuczmarski, E. R. (Creator), Goldman, R. D. (Creator) & Rheinstädter, M. C. (Creator), The Royal Society, 2017
DOI: 10.6084/m9.figshare.4818070, https://rs.figshare.com/articles/dataset/Giant_Axonal_Neuropathy_alters_the_structure_of_keratin_intermediate_filaments_in_human_hair_JRSocInterface_TensileSummary/4818070
Dataset
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Giant Axonal Neuropathy alters the structure of keratin intermediate filaments in human hair_JRSocInterface_TensileData
Soomro, A. (Contributor), Alsop, R. J. (Creator), Negishi, A. (Creator), Kreplak, L. (Creator), Fudge, D. (Creator), Kuczmarski, E. R. (Creator), Goldman, R. D. (Creator) & Rheinstädter, M. C. (Creator), The Royal Society, 2017
DOI: 10.6084/m9.figshare.4818118, https://rs.figshare.com/articles/dataset/Giant_Axonal_Neuropathy_alters_the_structure_of_keratin_intermediate_filaments_in_human_hair_JRSocInterface_TensileData/4818118
Dataset