Epigenetic regulation in spinal muscular atrophy: emerging areas and future directions
Abstract Spinal Muscular Atrophy (SMA) is a neuromuscular disorder precipitated by mutations or deletions in the Survival Motor Neuron 1 (SMN1) gene. Although the SMN2 gene partially compensates for SMN1 functional deficiency, its expression is regulated by complex epigenetic and environmental facto...
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| Format: | Article |
| Language: | English |
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BMC
2025-07-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-025-03857-3 |
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| author | Haoran Li Bo Yu Ye yuan Nannan Chen Jimeng Wu Zhiqing Zhang |
| author_facet | Haoran Li Bo Yu Ye yuan Nannan Chen Jimeng Wu Zhiqing Zhang |
| author_sort | Haoran Li |
| collection | DOAJ |
| description | Abstract Spinal Muscular Atrophy (SMA) is a neuromuscular disorder precipitated by mutations or deletions in the Survival Motor Neuron 1 (SMN1) gene. Although the SMN2 gene partially compensates for SMN1 functional deficiency, its expression is regulated by complex epigenetic and environmental factors. This review comprehensively elucidates the regulatory mechanisms through which epigenetic modifications-encompassing DNA methylation, histone modifications, and non-coding RNAs-modulate SMN2 gene expression and impact SMA pathogenesis and progression. We also briefly discuss how these epigenetic mechanisms may interact with selected environmental factors in modifying disease outcomes. Emerging evidence suggests that these epigenetic factors and environmental exposures interact synergistically to influence disease trajectory and may account for the heterogeneity observed in SMA clinical manifestations. These insights have given rise to novel therapeutic strategies, including pharmacological interventions targeting epigenetic pathways and optimized management of environmental factors. Integrating multi-omics analyses holds promise for advancing personalized precision medicine approaches for SMA and potentially improving patient outcomes. |
| format | Article |
| id | doaj-art-03f635a36df24e1fa3e4868a72c5407d |
| institution | DOAJ |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-03f635a36df24e1fa3e4868a72c5407d2025-08-20T03:06:05ZengBMCOrphanet Journal of Rare Diseases1750-11722025-07-0120111810.1186/s13023-025-03857-3Epigenetic regulation in spinal muscular atrophy: emerging areas and future directionsHaoran Li0Bo Yu1Ye yuan2Nannan Chen3Jimeng Wu4Zhiqing Zhang5Department of Pharmacy, The Second Hospital of Hebei Medical UniversityDepartment of Pediatrics, The Second Hospital of Hebei Medical UniversityDepartment of Pharmacy, The Second Hospital of Hebei Medical UniversityDepartment of Pharmacy, The Second Hospital of Hebei Medical UniversitySchool of Basic Medicine, Chengde Medical CollegeDepartment of Pharmacy, The Second Hospital of Hebei Medical UniversityAbstract Spinal Muscular Atrophy (SMA) is a neuromuscular disorder precipitated by mutations or deletions in the Survival Motor Neuron 1 (SMN1) gene. Although the SMN2 gene partially compensates for SMN1 functional deficiency, its expression is regulated by complex epigenetic and environmental factors. This review comprehensively elucidates the regulatory mechanisms through which epigenetic modifications-encompassing DNA methylation, histone modifications, and non-coding RNAs-modulate SMN2 gene expression and impact SMA pathogenesis and progression. We also briefly discuss how these epigenetic mechanisms may interact with selected environmental factors in modifying disease outcomes. Emerging evidence suggests that these epigenetic factors and environmental exposures interact synergistically to influence disease trajectory and may account for the heterogeneity observed in SMA clinical manifestations. These insights have given rise to novel therapeutic strategies, including pharmacological interventions targeting epigenetic pathways and optimized management of environmental factors. Integrating multi-omics analyses holds promise for advancing personalized precision medicine approaches for SMA and potentially improving patient outcomes.https://doi.org/10.1186/s13023-025-03857-3Spinal muscular atrophyEpigeneticsEnvironmental factorsSMN2 gene |
| spellingShingle | Haoran Li Bo Yu Ye yuan Nannan Chen Jimeng Wu Zhiqing Zhang Epigenetic regulation in spinal muscular atrophy: emerging areas and future directions Orphanet Journal of Rare Diseases Spinal muscular atrophy Epigenetics Environmental factors SMN2 gene |
| title | Epigenetic regulation in spinal muscular atrophy: emerging areas and future directions |
| title_full | Epigenetic regulation in spinal muscular atrophy: emerging areas and future directions |
| title_fullStr | Epigenetic regulation in spinal muscular atrophy: emerging areas and future directions |
| title_full_unstemmed | Epigenetic regulation in spinal muscular atrophy: emerging areas and future directions |
| title_short | Epigenetic regulation in spinal muscular atrophy: emerging areas and future directions |
| title_sort | epigenetic regulation in spinal muscular atrophy emerging areas and future directions |
| topic | Spinal muscular atrophy Epigenetics Environmental factors SMN2 gene |
| url | https://doi.org/10.1186/s13023-025-03857-3 |
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