Drug Discovery of Spinal Muscular Atrophy (SMA) from the Computational Perspective: A Comprehensive Review
Spinal muscular atrophy (SMA), one of the leading inherited causes of child mortality, is a rare neuromuscular disease arising from loss-of-function mutations of the survival motor neuron 1 (<i>SMN1</i>) gene, which encodes the SMN protein. When lacking the SMN protein in neurons, patien...
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| Format: | Article |
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MDPI AG
2021-08-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/22/16/8962 |
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| author | Li Chuin Chong Gayatri Gandhi Jian Ming Lee Wendy Wai Yeng Yeo Sy-Bing Choi |
| author_facet | Li Chuin Chong Gayatri Gandhi Jian Ming Lee Wendy Wai Yeng Yeo Sy-Bing Choi |
| author_sort | Li Chuin Chong |
| collection | DOAJ |
| description | Spinal muscular atrophy (SMA), one of the leading inherited causes of child mortality, is a rare neuromuscular disease arising from loss-of-function mutations of the survival motor neuron 1 (<i>SMN1</i>) gene, which encodes the SMN protein. When lacking the SMN protein in neurons, patients suffer from muscle weakness and atrophy, and in the severe cases, respiratory failure and death. Several therapeutic approaches show promise with human testing and three medications have been approved by the U.S. Food and Drug Administration (FDA) to date. Despite the shown promise of these approved therapies, there are some crucial limitations, one of the most important being the cost. The FDA-approved drugs are high-priced and are shortlisted among the most expensive treatments in the world. The price is still far beyond affordable and may serve as a burden for patients. The blooming of the biomedical data and advancement of computational approaches have opened new possibilities for SMA therapeutic development. This article highlights the present status of computationally aided approaches, including <i>in silico</i> drug repurposing, network driven drug discovery as well as artificial intelligence (AI)-assisted drug discovery, and discusses the future prospects. |
| first_indexed | 2024-03-10T08:43:31Z |
| format | Article |
| id | doaj.art-06f5025de7d34b58af85d9f82e7578c5 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T08:43:31Z |
| publishDate | 2021-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-06f5025de7d34b58af85d9f82e7578c52023-11-22T08:03:17ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-08-012216896210.3390/ijms22168962Drug Discovery of Spinal Muscular Atrophy (SMA) from the Computational Perspective: A Comprehensive ReviewLi Chuin Chong0Gayatri Gandhi1Jian Ming Lee2Wendy Wai Yeng Yeo3Sy-Bing Choi4Centre for Bioinformatics, School of Data Sciences, Perdana University, Suite 9.2, 9th Floor, Wisma Chase Perdana, Changkat Semantan, Kuala Lumpur 50490, MalaysiaPerdana University Graduate School of Medicine, Perdana University, Suite 9.2, 9th Floor, Wisma Chase Perdana, Changkat Semantan, Kuala Lumpur 50490, MalaysiaCentre for Bioinformatics, School of Data Sciences, Perdana University, Suite 9.2, 9th Floor, Wisma Chase Perdana, Changkat Semantan, Kuala Lumpur 50490, MalaysiaPerdana University Graduate School of Medicine, Perdana University, Suite 9.2, 9th Floor, Wisma Chase Perdana, Changkat Semantan, Kuala Lumpur 50490, MalaysiaCentre for Bioinformatics, School of Data Sciences, Perdana University, Suite 9.2, 9th Floor, Wisma Chase Perdana, Changkat Semantan, Kuala Lumpur 50490, MalaysiaSpinal muscular atrophy (SMA), one of the leading inherited causes of child mortality, is a rare neuromuscular disease arising from loss-of-function mutations of the survival motor neuron 1 (<i>SMN1</i>) gene, which encodes the SMN protein. When lacking the SMN protein in neurons, patients suffer from muscle weakness and atrophy, and in the severe cases, respiratory failure and death. Several therapeutic approaches show promise with human testing and three medications have been approved by the U.S. Food and Drug Administration (FDA) to date. Despite the shown promise of these approved therapies, there are some crucial limitations, one of the most important being the cost. The FDA-approved drugs are high-priced and are shortlisted among the most expensive treatments in the world. The price is still far beyond affordable and may serve as a burden for patients. The blooming of the biomedical data and advancement of computational approaches have opened new possibilities for SMA therapeutic development. This article highlights the present status of computationally aided approaches, including <i>in silico</i> drug repurposing, network driven drug discovery as well as artificial intelligence (AI)-assisted drug discovery, and discusses the future prospects.https://www.mdpi.com/1422-0067/22/16/8962drug discoverydrug therapyspinal muscular atrophySMAneuromuscular disordercomputational aided drug discovery |
| spellingShingle | Li Chuin Chong Gayatri Gandhi Jian Ming Lee Wendy Wai Yeng Yeo Sy-Bing Choi Drug Discovery of Spinal Muscular Atrophy (SMA) from the Computational Perspective: A Comprehensive Review International Journal of Molecular Sciences drug discovery drug therapy spinal muscular atrophy SMA neuromuscular disorder computational aided drug discovery |
| title | Drug Discovery of Spinal Muscular Atrophy (SMA) from the Computational Perspective: A Comprehensive Review |
| title_full | Drug Discovery of Spinal Muscular Atrophy (SMA) from the Computational Perspective: A Comprehensive Review |
| title_fullStr | Drug Discovery of Spinal Muscular Atrophy (SMA) from the Computational Perspective: A Comprehensive Review |
| title_full_unstemmed | Drug Discovery of Spinal Muscular Atrophy (SMA) from the Computational Perspective: A Comprehensive Review |
| title_short | Drug Discovery of Spinal Muscular Atrophy (SMA) from the Computational Perspective: A Comprehensive Review |
| title_sort | drug discovery of spinal muscular atrophy sma from the computational perspective a comprehensive review |
| topic | drug discovery drug therapy spinal muscular atrophy SMA neuromuscular disorder computational aided drug discovery |
| url | https://www.mdpi.com/1422-0067/22/16/8962 |
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