Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls.
Spinal muscular atrophy is caused by a functional deletion of SMN1 on Chromosome 5, which leads to a progressive loss of motor function in affected patients. SMA patients have at least one copy of a similar gene, SMN2, which produces functional SMN protein, although in reduced quantities. The severi...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2015-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC4607439?pdf=render |
| _version_ | 1818019236431265792 |
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| author | Christian Czech Wakana Tang Teodorica Bugawan Calvin Mano Carsten Horn Victor Alejandro Iglesias Stefanie Fröhner Phillip G Zaworski Sergey Paushkin Karen Chen Thomas Kremer |
| author_facet | Christian Czech Wakana Tang Teodorica Bugawan Calvin Mano Carsten Horn Victor Alejandro Iglesias Stefanie Fröhner Phillip G Zaworski Sergey Paushkin Karen Chen Thomas Kremer |
| author_sort | Christian Czech |
| collection | DOAJ |
| description | Spinal muscular atrophy is caused by a functional deletion of SMN1 on Chromosome 5, which leads to a progressive loss of motor function in affected patients. SMA patients have at least one copy of a similar gene, SMN2, which produces functional SMN protein, although in reduced quantities. The severity of SMA is variable, partially due to differences in SMN2 copy numbers. Here, we report the results of a biomarker study characterizing SMA patients of varying disease severity. SMN copy number, mRNA and Protein levels in whole blood of patients were measured and compared against a cohort of healthy controls. The results show differential regulation of expression of SMN2 in peripheral blood between patients and healthy subjects. |
| first_indexed | 2024-04-14T07:50:16Z |
| format | Article |
| id | doaj.art-53d4a02249404fa68e098254b9bca7fb |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-04-14T07:50:16Z |
| publishDate | 2015-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-53d4a02249404fa68e098254b9bca7fb2022-12-22T02:05:13ZengPublic Library of Science (PLoS)PLoS ONE1932-62032015-01-011010e013995010.1371/journal.pone.0139950Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls.Christian CzechWakana TangTeodorica BugawanCalvin ManoCarsten HornVictor Alejandro IglesiasStefanie FröhnerPhillip G ZaworskiSergey PaushkinKaren ChenThomas KremerSpinal muscular atrophy is caused by a functional deletion of SMN1 on Chromosome 5, which leads to a progressive loss of motor function in affected patients. SMA patients have at least one copy of a similar gene, SMN2, which produces functional SMN protein, although in reduced quantities. The severity of SMA is variable, partially due to differences in SMN2 copy numbers. Here, we report the results of a biomarker study characterizing SMA patients of varying disease severity. SMN copy number, mRNA and Protein levels in whole blood of patients were measured and compared against a cohort of healthy controls. The results show differential regulation of expression of SMN2 in peripheral blood between patients and healthy subjects.http://europepmc.org/articles/PMC4607439?pdf=render |
| spellingShingle | Christian Czech Wakana Tang Teodorica Bugawan Calvin Mano Carsten Horn Victor Alejandro Iglesias Stefanie Fröhner Phillip G Zaworski Sergey Paushkin Karen Chen Thomas Kremer Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls. PLoS ONE |
| title | Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls. |
| title_full | Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls. |
| title_fullStr | Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls. |
| title_full_unstemmed | Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls. |
| title_short | Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls. |
| title_sort | biomarker for spinal muscular atrophy expression of smn in peripheral blood of sma patients and healthy controls |
| url | http://europepmc.org/articles/PMC4607439?pdf=render |
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