MicroRNAs as Biomarkers in Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a severe neurodegenerative disease caused by the loss of the survival motor neuron (SMN) protein, leading to degeneration of anterior motor neurons and resulting in progressive muscle weakness and atrophy. Given that SMA has a single, well-defined genetic cause, gene...
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MDPI AG
2024-10-01
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| author | Maruša Barbo Damjan Glavač Gregor Jezernik Metka Ravnik-Glavač |
| author_facet | Maruša Barbo Damjan Glavač Gregor Jezernik Metka Ravnik-Glavač |
| author_sort | Maruša Barbo |
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| description | Spinal muscular atrophy (SMA) is a severe neurodegenerative disease caused by the loss of the survival motor neuron (SMN) protein, leading to degeneration of anterior motor neurons and resulting in progressive muscle weakness and atrophy. Given that SMA has a single, well-defined genetic cause, gene-targeted therapies have been developed, aiming to increase SMN production in SMA patients. The SMN protein is likely involved in the synthesis of microRNAs (miRNAs), and dysregulated miRNA expression is increasingly associated with the pathophysiology of SMA. Currently, there is a lack of reliable biomarkers to monitor SMA; therefore, the search for novel SMA biomarkers, including miRNAs, is crucial as reliable tools are needed to track disease progression, predict the response to therapy and understand the different clinical outcomes of available treatments. In this review, we compile data on miRNAs associated with SMA pathogenesis and their potential use as biomarkers. Based on current knowledge, the most frequently deregulated miRNAs between SMA patients and controls, as well as pre- and post-treatment in SMA patients, include miR-1-3p, miR-133a-3p, miR-133b, and miR-206. These findings offer promising possibilities for improving patient classification and monitoring disease progression and response to treatment. Additionally, these findings provide insights into the broader molecular mechanisms and networks of SMA that could inform the development of future therapeutic strategies. |
| format | Article |
| id | doaj-art-eaaf01b85fa84707bf1a1f98ca34fc04 |
| institution | OA Journals |
| issn | 2227-9059 |
| language | English |
| publishDate | 2024-10-01 |
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| series | Biomedicines |
| spelling | doaj-art-eaaf01b85fa84707bf1a1f98ca34fc042025-08-20T01:53:49ZengMDPI AGBiomedicines2227-90592024-10-011211242810.3390/biomedicines12112428MicroRNAs as Biomarkers in Spinal Muscular AtrophyMaruša Barbo0Damjan Glavač1Gregor Jezernik2Metka Ravnik-Glavač3Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, SloveniaCenter for Human Genetics & Pharmacogenomics, Faculty of Medicine, University of Maribor, SI-2000 Maribor, SloveniaCenter for Human Genetics & Pharmacogenomics, Faculty of Medicine, University of Maribor, SI-2000 Maribor, SloveniaInstitute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, SloveniaSpinal muscular atrophy (SMA) is a severe neurodegenerative disease caused by the loss of the survival motor neuron (SMN) protein, leading to degeneration of anterior motor neurons and resulting in progressive muscle weakness and atrophy. Given that SMA has a single, well-defined genetic cause, gene-targeted therapies have been developed, aiming to increase SMN production in SMA patients. The SMN protein is likely involved in the synthesis of microRNAs (miRNAs), and dysregulated miRNA expression is increasingly associated with the pathophysiology of SMA. Currently, there is a lack of reliable biomarkers to monitor SMA; therefore, the search for novel SMA biomarkers, including miRNAs, is crucial as reliable tools are needed to track disease progression, predict the response to therapy and understand the different clinical outcomes of available treatments. In this review, we compile data on miRNAs associated with SMA pathogenesis and their potential use as biomarkers. Based on current knowledge, the most frequently deregulated miRNAs between SMA patients and controls, as well as pre- and post-treatment in SMA patients, include miR-1-3p, miR-133a-3p, miR-133b, and miR-206. These findings offer promising possibilities for improving patient classification and monitoring disease progression and response to treatment. Additionally, these findings provide insights into the broader molecular mechanisms and networks of SMA that could inform the development of future therapeutic strategies.https://www.mdpi.com/2227-9059/12/11/2428spinal muscular atrophySMAcirculating miRNAbiomarkersmolecular networks |
| spellingShingle | Maruša Barbo Damjan Glavač Gregor Jezernik Metka Ravnik-Glavač MicroRNAs as Biomarkers in Spinal Muscular Atrophy Biomedicines spinal muscular atrophy SMA circulating miRNA biomarkers molecular networks |
| title | MicroRNAs as Biomarkers in Spinal Muscular Atrophy |
| title_full | MicroRNAs as Biomarkers in Spinal Muscular Atrophy |
| title_fullStr | MicroRNAs as Biomarkers in Spinal Muscular Atrophy |
| title_full_unstemmed | MicroRNAs as Biomarkers in Spinal Muscular Atrophy |
| title_short | MicroRNAs as Biomarkers in Spinal Muscular Atrophy |
| title_sort | micrornas as biomarkers in spinal muscular atrophy |
| topic | spinal muscular atrophy SMA circulating miRNA biomarkers molecular networks |
| url | https://www.mdpi.com/2227-9059/12/11/2428 |
| work_keys_str_mv | AT marusabarbo micrornasasbiomarkersinspinalmuscularatrophy AT damjanglavac micrornasasbiomarkersinspinalmuscularatrophy AT gregorjezernik micrornasasbiomarkersinspinalmuscularatrophy AT metkaravnikglavac micrornasasbiomarkersinspinalmuscularatrophy |