title: Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls.
abstract: 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.
authors.affiliation: Roche Pharmaceutical Research & Early Development, Neuroscience, Roche Innovation Center Basel F. Hoffmann -La Roche, Basel.
authors.forename: Christian
authors.initials: C
authors.lastname: Czech
authors.affiliation: Research - Genomics & Oncology, Roche Molecular Systems, Inc., Pleasanton, CA, United States of America.
authors.forename: Wakana
authors.initials: W
authors.lastname: Tang
authors.affiliation: Research - Genomics & Oncology, Roche Molecular Systems, Inc., Pleasanton, CA, United States of America.
authors.forename: Teodorica
authors.initials: T
authors.lastname: Bugawan
authors.affiliation: Research - Genomics & Oncology, Roche Molecular Systems, Inc., Pleasanton, CA, United States of America.
authors.forename: Calvin
authors.initials: C
authors.lastname: Mano
authors.affiliation: Roche Pharmaceutical Research & Early Development, Neuroscience, Roche Innovation Center Basel F. Hoffmann -La Roche, Basel.
authors.forename: Carsten
authors.initials: C
authors.lastname: Horn
authors.affiliation: Roche Pharmaceutical Research & Early Development, Neuroscience, Roche Innovation Center Basel F. Hoffmann -La Roche, Basel.
authors.forename: Victor Alejandro
authors.initials: VA
authors.lastname: Iglesias
authors.affiliation: Roche Diagnostics GmbH, Penzberg, Germany.
authors.forename: Stefanie
authors.initials: S
authors.lastname: Fröhner
authors.affiliation: PharmOptima Inc., Portage, Michigan, United States of America.
authors.forename: Phillip G
authors.initials: PG
authors.lastname: Zaworski
authors.affiliation: SMA Foundation, New York, NY, United States of America.
authors.forename: Sergey
authors.initials: S
authors.lastname: Paushkin
authors.affiliation: SMA Foundation, New York, NY, United States of America.
authors.forename: Karen
authors.initials: K
authors.lastname: Chen
authors.affiliation: Roche Pharmaceutical Research & Early Development, Neuroscience, Roche Innovation Center Basel F. Hoffmann -La Roche, Basel.
authors.forename: Thomas
authors.initials: T
authors.lastname: Kremer
mesh_terms: D000293:Adolescent; D000328:Adult; D001681:Biological Assay; D015415:Biomarkers / Q000097:blood*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D056915:DNA Copy Number Variations; D005260:Female; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000097:blood* / Q000175:diagnosis* / Q000235:genetics; D011379:Prognosis; D060888:Real-Time Polymerase Chain Reaction; D055533:Survival of Motor Neuron 1 Protein / Q000097:blood* / Q000235:genetics; D055540:Survival of Motor Neuron 2 Protein / Q000097:blood / Q000235:genetics; D055815:Young Adult
chemical_list: D015415:Biomarkers; C526471:SMN1 protein, human; C526477:SMN2 protein, human; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein