Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy
Most cases of spinal muscular atrophy are caused by functional loss of the survival of motor neuron 1 ( SMN1 ) gene, while less than 5% of cases are attributed to genes other than SMN . Mutations in LMNA , the lamin A/C encoding gene, cause an adult form of spinal muscular atrophy (SMA), and in our...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2020-03-01
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| Series: | Neuroscience Insights |
| Online Access: | https://doi.org/10.1177/2633105520914301 |
| _version_ | 1818978164016152576 |
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| author | Darija Šoltić Heidi R Fuller |
| author_facet | Darija Šoltić Heidi R Fuller |
| author_sort | Darija Šoltić |
| collection | DOAJ |
| description | Most cases of spinal muscular atrophy are caused by functional loss of the survival of motor neuron 1 ( SMN1 ) gene, while less than 5% of cases are attributed to genes other than SMN . Mutations in LMNA , the lamin A/C encoding gene, cause an adult form of spinal muscular atrophy (SMA), and in our recent work, we highlight a role for lamin A/C in SMN-related SMA pathways. Here, we discuss this apparent molecular crosstalk between different types of SMA in context with previous work, showing that dysregulation of proteins produced by other SMA-causing genes, including UBE1, GARS , and SETX , are also implicated in SMN-related SMA pathways. The perturbation of UBE1, GARS, and lamin A/C help explain mechanisms of tissue-specific pathology in SMA, and we propose Wnt/β-catenin signalling as a common molecular pathway on which they each converge. Therapeutic strategies directed at these proteins, or their convergent pathways, may therefore offer a new approach to targeting tissue-specific pathology in SMN-related SMA. |
| first_indexed | 2024-12-20T16:39:17Z |
| format | Article |
| id | doaj.art-2e8a7409a3054209bc76af60fb3b0cdb |
| institution | Directory Open Access Journal |
| issn | 2633-1055 |
| language | English |
| last_indexed | 2024-12-20T16:39:17Z |
| publishDate | 2020-03-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | Neuroscience Insights |
| spelling | doaj.art-2e8a7409a3054209bc76af60fb3b0cdb2022-12-21T19:33:03ZengSAGE PublishingNeuroscience Insights2633-10552020-03-011510.1177/2633105520914301Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular AtrophyDarija Šoltić0Heidi R Fuller1The School of Pharmacy and Bioengineering, Keele University, Keele, UKThe School of Pharmacy and Bioengineering, Keele University, Keele, UKMost cases of spinal muscular atrophy are caused by functional loss of the survival of motor neuron 1 ( SMN1 ) gene, while less than 5% of cases are attributed to genes other than SMN . Mutations in LMNA , the lamin A/C encoding gene, cause an adult form of spinal muscular atrophy (SMA), and in our recent work, we highlight a role for lamin A/C in SMN-related SMA pathways. Here, we discuss this apparent molecular crosstalk between different types of SMA in context with previous work, showing that dysregulation of proteins produced by other SMA-causing genes, including UBE1, GARS , and SETX , are also implicated in SMN-related SMA pathways. The perturbation of UBE1, GARS, and lamin A/C help explain mechanisms of tissue-specific pathology in SMA, and we propose Wnt/β-catenin signalling as a common molecular pathway on which they each converge. Therapeutic strategies directed at these proteins, or their convergent pathways, may therefore offer a new approach to targeting tissue-specific pathology in SMN-related SMA.https://doi.org/10.1177/2633105520914301 |
| spellingShingle | Darija Šoltić Heidi R Fuller Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy Neuroscience Insights |
| title | Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy |
| title_full | Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy |
| title_fullStr | Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy |
| title_full_unstemmed | Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy |
| title_short | Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy |
| title_sort | molecular crosstalk between non smn related and smn related spinal muscular atrophy |
| url | https://doi.org/10.1177/2633105520914301 |
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