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...

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Autores principales: Czech, Christian, Tang, Wakana, Bugawan, Teodorica, Mano, Calvin, Horn, Carsten, Iglesias, Victor Alejandro, Fröhner, Stefanie, Zaworski, Phillip G., Paushkin, Sergey, Chen, Karen, Kremer, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4607439/
https://www.ncbi.nlm.nih.gov/pubmed/26468953
http://dx.doi.org/10.1371/journal.pone.0139950
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author Czech, Christian
Tang, Wakana
Bugawan, Teodorica
Mano, Calvin
Horn, Carsten
Iglesias, Victor Alejandro
Fröhner, Stefanie
Zaworski, Phillip G.
Paushkin, Sergey
Chen, Karen
Kremer, Thomas
author_facet Czech, Christian
Tang, Wakana
Bugawan, Teodorica
Mano, Calvin
Horn, Carsten
Iglesias, Victor Alejandro
Fröhner, Stefanie
Zaworski, Phillip G.
Paushkin, Sergey
Chen, Karen
Kremer, Thomas
author_sort Czech, Christian
collection PubMed
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.
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spelling pubmed-46074392015-10-29 Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls Czech, Christian Tang, Wakana Bugawan, Teodorica Mano, Calvin Horn, Carsten Iglesias, Victor Alejandro Fröhner, Stefanie Zaworski, Phillip G. Paushkin, Sergey Chen, Karen Kremer, Thomas PLoS One Research Article 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. Public Library of Science 2015-10-15 /pmc/articles/PMC4607439/ /pubmed/26468953 http://dx.doi.org/10.1371/journal.pone.0139950 Text en © 2015 Czech et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Czech, Christian
Tang, Wakana
Bugawan, Teodorica
Mano, Calvin
Horn, Carsten
Iglesias, Victor Alejandro
Fröhner, Stefanie
Zaworski, Phillip G.
Paushkin, Sergey
Chen, Karen
Kremer, Thomas
Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls
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
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4607439/
https://www.ncbi.nlm.nih.gov/pubmed/26468953
http://dx.doi.org/10.1371/journal.pone.0139950
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