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

doi:10.1098/rsif.2017.0123

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

Cell & Developmental Biology

Research output: Contribution to journal › Article › peer-review

6 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 language	English (US)
Article number	20170123
Journal	Journal of the Royal Society Interface
Volume	14
Issue number	129
DOIs	https://doi.org/10.1098/rsif.2017.0123
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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10.1098/rsif.2017.0123

Cite this

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title = "Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair",

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.",

keywords = "Giant axonal neuropathy, Human hair, Keratin intermediate filaments, Tensile testing, X-ray diffraction",

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AU - Soomro, Asfia

AU - Alsop, Richard J.

AU - Negishi, Atsuko

AU - Kreplak, Laurent

AU - Fudge, Douglas

AU - Kuczmarski, Edward R.

AU - Goldman, Robert D.

AU - Rheinstädter, Maikel C.

PY - 2017/4/1

Y1 - 2017/4/1

N2 - 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.

AB - 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.

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KW - Human hair

KW - Keratin intermediate filaments

KW - Tensile testing

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

Abstract

Funding

Keywords

ASJC Scopus subject areas

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