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Four novel ARSA 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, Masoumeh Dehghan, Kamalidehghan, Behnam, Aryani, Omid, Khalili, Elham, Dadgar, Sepideh, Tondar, Mahdi, Ahmadipour, Fatemeh, Goh, Yong Meng, Houshmand, Massoud
Format: Article
Language:English
Published: Dove Medical Press 2017
Online Access:http://psasir.upm.edu.my/id/eprint/61916/1/Four%20novel%20ARSA%20gene%20mutations%20with%20pathogenic.pdf
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spelling oai:psasir.upm.edu.my:61916 http://psasir.upm.edu.my/id/eprint/61916/ Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations Manshadi, Masoumeh Dehghan Kamalidehghan, Behnam Aryani, Omid Khalili, Elham Dadgar, Sepideh Tondar, Mahdi Ahmadipour, Fatemeh Goh, Yong Meng Houshmand, Massoud 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 2017-06 Article PeerReviewed text en http://psasir.upm.edu.my/id/eprint/61916/1/Four%20novel%20ARSA%20gene%20mutations%20with%20pathogenic.pdf Manshadi, Masoumeh Dehghan and Kamalidehghan, Behnam and Aryani, Omid and Khalili, Elham and Dadgar, Sepideh and Tondar, Mahdi and Ahmadipour, Fatemeh and Goh, Yong Meng and Houshmand, Massoud (2017) Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations. Therapeutics and Clinical Risk Management, 13. 725 - 731. ISSN 1176-6336; ESSN: 1178-203X https://www.dovepress.com/four-novel-arsa-gene-mutations-with-pathogenic-impacts-on-metachromati-peer-reviewed-article-TCRM 10.2147/TCRM.S119967
institution UPM IR
collection UPM IR
language English
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, Masoumeh Dehghan
Kamalidehghan, Behnam
Aryani, Omid
Khalili, Elham
Dadgar, Sepideh
Tondar, Mahdi
Ahmadipour, Fatemeh
Goh, Yong Meng
Houshmand, Massoud
spellingShingle Manshadi, Masoumeh Dehghan
Kamalidehghan, Behnam
Aryani, Omid
Khalili, Elham
Dadgar, Sepideh
Tondar, Mahdi
Ahmadipour, Fatemeh
Goh, Yong Meng
Houshmand, Massoud
Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations
author_facet Manshadi, Masoumeh Dehghan
Kamalidehghan, Behnam
Aryani, Omid
Khalili, Elham
Dadgar, Sepideh
Tondar, Mahdi
Ahmadipour, Fatemeh
Goh, Yong Meng
Houshmand, Massoud
author_sort Manshadi, Masoumeh Dehghan
title Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations
title_short Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations
title_full Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations
title_fullStr Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations
title_full_unstemmed Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations
title_sort four novel arsa gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations
publisher Dove Medical Press
publishDate 2017
url http://psasir.upm.edu.my/id/eprint/61916/1/Four%20novel%20ARSA%20gene%20mutations%20with%20pathogenic.pdf
_version_ 1819298145092239360
score 13.4562235

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