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...

Descripción completa

Detalles Bibliográficos
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
Descripción
Sumario: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.

Ejemplares similares