| Autor: |
Czech C; Roche Pharmaceutical Research & Early Development, Neuroscience, Roche Innovation Center Basel F. Hoffmann -La Roche, Basel., Tang W; Research - Genomics & Oncology, Roche Molecular Systems, Inc., Pleasanton, CA, United States of America., Bugawan T; Research - Genomics & Oncology, Roche Molecular Systems, Inc., Pleasanton, CA, United States of America., Mano C; Research - Genomics & Oncology, Roche Molecular Systems, Inc., Pleasanton, CA, United States of America., Horn C; Roche Pharmaceutical Research & Early Development, Neuroscience, Roche Innovation Center Basel F. Hoffmann -La Roche, Basel., Iglesias VA; Roche Pharmaceutical Research & Early Development, Neuroscience, Roche Innovation Center Basel F. Hoffmann -La Roche, Basel., Fröhner S; Roche Diagnostics GmbH, Penzberg, Germany., Zaworski PG; PharmOptima Inc., Portage, Michigan, United States of America., Paushkin S; SMA Foundation, New York, NY, United States of America., Chen K; SMA Foundation, New York, NY, United States of America., Kremer T; Roche Pharmaceutical Research & Early Development, Neuroscience, Roche Innovation Center Basel F. Hoffmann -La Roche, Basel. |
| Abstrakt: |
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. |
