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Four novel <em>ARSA</em> gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations

Metachromatic leukodystrophy (MLD) disorder is a rare lysosomal storage disorder that leads to severe neurological symptoms and an early death. MLD occurs due to the deficiency of enzyme arylsulfatase A (ARSA) in leukocytes, and patients with MLD excrete sulfatide in their urine. In this study, the...

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Main Authors: Manshadi, M.D., Kamalidehghan, B., Aryani, O., Khalili, E., Dadgar, S., Tondar, M., Ahmadipour, F., Meng, G.Y., Houshmand, M.
Format: Article
Published: Dove Medical Press 2017
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R Medicine
Online Access:http://eprints.um.edu.my/19102/
http://dx.doi.org/10.2147/TCRM.S119967
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spelling my.um.eprints.191022018-09-05T02:10:34Z http://eprints.um.edu.my/19102/ Four novel <em>ARSA</em> gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations Manshadi, M.D. Kamalidehghan, B. Aryani, O. Khalili, E. Dadgar, S. Tondar, M. Ahmadipour, F. Meng, G.Y. Houshmand, M. R Medicine Metachromatic leukodystrophy (MLD) disorder is a rare lysosomal storage disorder that leads to severe neurological symptoms and an early death. MLD occurs due to the deficiency of enzyme arylsulfatase A (ARSA) in leukocytes, and patients with MLD excrete sulfatide in their urine. In this study, the ARSA gene in 12 non-consanguineous MLD patients and 40 healthy individuals was examined using polymerase chain reaction sequencing. Furthermore, the structural and functional effects of new mutations on ARSA were analyzed using SIFT (sorting intolerant from tolerant), I-Mutant 2, and PolyPhen bioinformatics software. Here, 4 new pathogenic homozygous mutations c.585G>T, c.661T>A, c.849C>G, and c.911A>G were detected. The consequence of this study has extended the genotypic spectrum of MLD patients, paving way to a more effective method for carrier detection and genetic counseling. Dove Medical Press 2017 Article PeerReviewed Manshadi, M.D. and Kamalidehghan, B. and Aryani, O. and Khalili, E. and Dadgar, S. and Tondar, M. and Ahmadipour, F. and Meng, G.Y. and Houshmand, M. (2017) Four novel <em>ARSA</em> gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations. Therapeutics and Clinical Risk Management, 13. pp. 725-731. ISSN 1178-203X http://dx.doi.org/10.2147/TCRM.S119967 doi:10.2147/TCRM.S119967
institution Universiti Malaya
building UM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Malaya
content_source UM Research Repository
url_provider http://eprints.um.edu.my/
topic R Medicine
spellingShingle R Medicine
Manshadi, M.D.
Kamalidehghan, B.
Aryani, O.
Khalili, E.
Dadgar, S.
Tondar, M.
Ahmadipour, F.
Meng, G.Y.
Houshmand, M.
Four novel <em>ARSA</em> gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations
description Metachromatic leukodystrophy (MLD) disorder is a rare lysosomal storage disorder that leads to severe neurological symptoms and an early death. MLD occurs due to the deficiency of enzyme arylsulfatase A (ARSA) in leukocytes, and patients with MLD excrete sulfatide in their urine. In this study, the ARSA gene in 12 non-consanguineous MLD patients and 40 healthy individuals was examined using polymerase chain reaction sequencing. Furthermore, the structural and functional effects of new mutations on ARSA were analyzed using SIFT (sorting intolerant from tolerant), I-Mutant 2, and PolyPhen bioinformatics software. Here, 4 new pathogenic homozygous mutations c.585G>T, c.661T>A, c.849C>G, and c.911A>G were detected. The consequence of this study has extended the genotypic spectrum of MLD patients, paving way to a more effective method for carrier detection and genetic counseling.
format Article
author Manshadi, M.D.
Kamalidehghan, B.
Aryani, O.
Khalili, E.
Dadgar, S.
Tondar, M.
Ahmadipour, F.
Meng, G.Y.
Houshmand, M.
author_facet Manshadi, M.D.
Kamalidehghan, B.
Aryani, O.
Khalili, E.
Dadgar, S.
Tondar, M.
Ahmadipour, F.
Meng, G.Y.
Houshmand, M.
author_sort Manshadi, M.D.
title Four novel <em>ARSA</em> gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations
title_short Four novel <em>ARSA</em> gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations
title_full Four novel <em>ARSA</em> gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations
title_fullStr Four novel <em>ARSA</em> gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations
title_full_unstemmed Four novel <em>ARSA</em> gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations
title_sort four novel <em>arsa</em> gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations
publisher Dove Medical Press
publishDate 2017
url http://eprints.um.edu.my/19102/
http://dx.doi.org/10.2147/TCRM.S119967
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score 13.214268

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