Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a progressive degenerative illness that affects 1 in every 6 to 11,000 live births. This autosomal recessive disorder is caused by homozygous deletion or mutation of the <i>SMN1</i> gene (survival motor neuron). As a backup, the <i>SMN1</i> ge...
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MDPI AG
2023-08-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/12/15/5060 |
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| author | Marija Babić Maria Banović Ivana Berečić Tea Banić Mirjana Babić Leko Monika Ulamec Alisa Junaković Janja Kopić Jadranka Sertić Nina Barišić Goran Šimić |
| author_facet | Marija Babić Maria Banović Ivana Berečić Tea Banić Mirjana Babić Leko Monika Ulamec Alisa Junaković Janja Kopić Jadranka Sertić Nina Barišić Goran Šimić |
| author_sort | Marija Babić |
| collection | DOAJ |
| description | Spinal muscular atrophy (SMA) is a progressive degenerative illness that affects 1 in every 6 to 11,000 live births. This autosomal recessive disorder is caused by homozygous deletion or mutation of the <i>SMN1</i> gene (survival motor neuron). As a backup, the <i>SMN1</i> gene has the <i>SMN2</i> gene, which produces only 10% of the functional SMN protein. Nusinersen and risdiplam, the first FDA-approved medications, act as <i>SMN2</i> pre-mRNA splicing modifiers and enhance the quantity of SMN protein produced by this gene. The emergence of new therapies for SMA has increased the demand for good prognostic and pharmacodynamic (response) biomarkers in SMA. This article discusses current molecular diagnostic, prognostic, and pharmacodynamic biomarkers that could be assessed in SMA patients’ body fluids. Although various proteomic, genetic, and epigenetic biomarkers have been explored in SMA patients, more research is needed to uncover new prognostic and pharmacodynamic biomarkers (or a combination of biomarkers). |
| first_indexed | 2024-03-11T00:24:23Z |
| format | Article |
| id | doaj.art-611a781ac08e444690742012545fd15d |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-11T00:24:23Z |
| publishDate | 2023-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-611a781ac08e444690742012545fd15d2023-11-18T23:08:51ZengMDPI AGJournal of Clinical Medicine2077-03832023-08-011215506010.3390/jcm12155060Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular AtrophyMarija Babić0Maria Banović1Ivana Berečić2Tea Banić3Mirjana Babić Leko4Monika Ulamec5Alisa Junaković6Janja Kopić7Jadranka Sertić8Nina Barišić9Goran Šimić10Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, 10000 Zagreb, CroatiaDepartment of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, 10000 Zagreb, CroatiaDepartment of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, 10000 Zagreb, CroatiaDepartment of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, 10000 Zagreb, CroatiaDepartment of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, 10000 Zagreb, CroatiaDepartment of Pathology, University Clinical Hospital Sestre Milosrdnice Zagreb, 10000 Zagreb, CroatiaDepartment of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, 10000 Zagreb, CroatiaDepartment of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, 10000 Zagreb, CroatiaDepartment of Medical Chemistry and Biochemistry, University of Zagreb School of Medicine, 10000 Zagreb, CroatiaDepartment of Pediatrics, University Hospital Centre Zagreb, 10000 Zagreb, CroatiaDepartment of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, 10000 Zagreb, CroatiaSpinal muscular atrophy (SMA) is a progressive degenerative illness that affects 1 in every 6 to 11,000 live births. This autosomal recessive disorder is caused by homozygous deletion or mutation of the <i>SMN1</i> gene (survival motor neuron). As a backup, the <i>SMN1</i> gene has the <i>SMN2</i> gene, which produces only 10% of the functional SMN protein. Nusinersen and risdiplam, the first FDA-approved medications, act as <i>SMN2</i> pre-mRNA splicing modifiers and enhance the quantity of SMN protein produced by this gene. The emergence of new therapies for SMA has increased the demand for good prognostic and pharmacodynamic (response) biomarkers in SMA. This article discusses current molecular diagnostic, prognostic, and pharmacodynamic biomarkers that could be assessed in SMA patients’ body fluids. Although various proteomic, genetic, and epigenetic biomarkers have been explored in SMA patients, more research is needed to uncover new prognostic and pharmacodynamic biomarkers (or a combination of biomarkers).https://www.mdpi.com/2077-0383/12/15/5060spinal muscular atrophysurvival motor neuron 1 proteinpharmacological biomarkersprognosisnusinersen |
| spellingShingle | Marija Babić Maria Banović Ivana Berečić Tea Banić Mirjana Babić Leko Monika Ulamec Alisa Junaković Janja Kopić Jadranka Sertić Nina Barišić Goran Šimić Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy Journal of Clinical Medicine spinal muscular atrophy survival motor neuron 1 protein pharmacological biomarkers prognosis nusinersen |
| title | Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy |
| title_full | Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy |
| title_fullStr | Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy |
| title_full_unstemmed | Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy |
| title_short | Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy |
| title_sort | molecular biomarkers for the diagnosis prognosis and pharmacodynamics of spinal muscular atrophy |
| topic | spinal muscular atrophy survival motor neuron 1 protein pharmacological biomarkers prognosis nusinersen |
| url | https://www.mdpi.com/2077-0383/12/15/5060 |
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