SNP Analysis of the SOD1 gene involved in Amyotrophic Lateral Sclerosis (ALS)
ALS is a rare neurodegenerative disease causing the loss of motor neurons in the brain and spinal cord. Mutations in over forty genes, particularly the Superoxide Dismutase 1 (SOD1) gene, are linked to ALS. This study analyses the missense or non-synonymous SNPs (nsSNPs) in the coding region of SOD1...
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2025-12-01
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| Series: | Journal of Taibah University for Science |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/16583655.2024.2420463 |
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| author | Hetal Patel Anandita Banerjee Pritha Saha Subramaniyan Divya Palaniyandi Ravanan Priti Talwar |
| author_facet | Hetal Patel Anandita Banerjee Pritha Saha Subramaniyan Divya Palaniyandi Ravanan Priti Talwar |
| author_sort | Hetal Patel |
| collection | DOAJ |
| description | ALS is a rare neurodegenerative disease causing the loss of motor neurons in the brain and spinal cord. Mutations in over forty genes, particularly the Superoxide Dismutase 1 (SOD1) gene, are linked to ALS. This study analyses the missense or non-synonymous SNPs (nsSNPs) in the coding region of SOD1 using computational tools to predict the variations in structure and function of protein. The variants with most pathogenicity and clinical significance were further analyzed for stability and found to destabilize the protein structure based on Gibbs Free Energy (ddG) values. These 10 variants were modelled and validated, found occurring mostly in the conserved regions. Among these, 9 nsSNPs reported previously, while 1 novel nsSNP (F46S) was identified, characterized by reduced size and hydrobhobicity in comparison to the wild-type residue. This comprehensive study improves our understanding of the effects of SOD1 SNPs in ALS, thereby aiding in targeted therapies development. |
| format | Article |
| id | doaj-art-d1ba96ae6d2c4f95ac66c8f0328fb859 |
| institution | Kabale University |
| issn | 1658-3655 |
| language | English |
| publishDate | 2025-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Journal of Taibah University for Science |
| spelling | doaj-art-d1ba96ae6d2c4f95ac66c8f0328fb8592025-01-29T05:46:47ZengTaylor & Francis GroupJournal of Taibah University for Science1658-36552025-12-0119110.1080/16583655.2024.2420463SNP Analysis of the SOD1 gene involved in Amyotrophic Lateral Sclerosis (ALS)Hetal Patel0Anandita Banerjee1Pritha Saha2Subramaniyan Divya3Palaniyandi Ravanan4Priti Talwar5Apoptosis and Cell Survival Research Laboratory, Department of Biosciences, School of Biosciences and Technology, Vellore Institute of Technology, Vellore, Tamil Nadu, IndiaApoptosis and Cell Survival Research Laboratory, Department of Biosciences, School of Biosciences and Technology, Vellore Institute of Technology, Vellore, Tamil Nadu, IndiaApoptosis and Cell Survival Research Laboratory, Department of Biosciences, School of Biosciences and Technology, Vellore Institute of Technology, Vellore, Tamil Nadu, IndiaFunctional Genomics Laboratory, Department of Microbiology, School of Life Sciences, Central University of Tamil Nadu, Thiruvarur, Tamil Nadu, IndiaFunctional Genomics Laboratory, Department of Microbiology, School of Life Sciences, Central University of Tamil Nadu, Thiruvarur, Tamil Nadu, IndiaApoptosis and Cell Survival Research Laboratory, Department of Biosciences, School of Biosciences and Technology, Vellore Institute of Technology, Vellore, Tamil Nadu, IndiaALS is a rare neurodegenerative disease causing the loss of motor neurons in the brain and spinal cord. Mutations in over forty genes, particularly the Superoxide Dismutase 1 (SOD1) gene, are linked to ALS. This study analyses the missense or non-synonymous SNPs (nsSNPs) in the coding region of SOD1 using computational tools to predict the variations in structure and function of protein. The variants with most pathogenicity and clinical significance were further analyzed for stability and found to destabilize the protein structure based on Gibbs Free Energy (ddG) values. These 10 variants were modelled and validated, found occurring mostly in the conserved regions. Among these, 9 nsSNPs reported previously, while 1 novel nsSNP (F46S) was identified, characterized by reduced size and hydrobhobicity in comparison to the wild-type residue. This comprehensive study improves our understanding of the effects of SOD1 SNPs in ALS, thereby aiding in targeted therapies development.https://www.tandfonline.com/doi/10.1080/16583655.2024.2420463ALS pathogenesisSOD1 genensSNPsprotein stabilitypathogenicitymutation |
| spellingShingle | Hetal Patel Anandita Banerjee Pritha Saha Subramaniyan Divya Palaniyandi Ravanan Priti Talwar SNP Analysis of the SOD1 gene involved in Amyotrophic Lateral Sclerosis (ALS) Journal of Taibah University for Science ALS pathogenesis SOD1 gene nsSNPs protein stability pathogenicity mutation |
| title | SNP Analysis of the SOD1 gene involved in Amyotrophic Lateral Sclerosis (ALS) |
| title_full | SNP Analysis of the SOD1 gene involved in Amyotrophic Lateral Sclerosis (ALS) |
| title_fullStr | SNP Analysis of the SOD1 gene involved in Amyotrophic Lateral Sclerosis (ALS) |
| title_full_unstemmed | SNP Analysis of the SOD1 gene involved in Amyotrophic Lateral Sclerosis (ALS) |
| title_short | SNP Analysis of the SOD1 gene involved in Amyotrophic Lateral Sclerosis (ALS) |
| title_sort | snp analysis of the sod1 gene involved in amyotrophic lateral sclerosis als |
| topic | ALS pathogenesis SOD1 gene nsSNPs protein stability pathogenicity mutation |
| url | https://www.tandfonline.com/doi/10.1080/16583655.2024.2420463 |
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