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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Bibliographic Details
Published in:PloS one 2015-10, Vol.10 (10), p.e0139950-e0139950
Main Authors: Czech, Christian, Tang, Wakana, Bugawan, Teodorica, Mano, Calvin, Horn, Carsten, Iglesias, Victor Alejandro, Fröhner, Stefanie, Zaworski, Phillip G, Paushkin, Sergey, Chen, Karen, Kremer, Thomas
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age
Atrophy
Bioindicators
Biological Assay
Biomarkers
Biomarkers - blood
Blood
Case-Control Studies
Child
Child, Preschool
Chromosome 5
Chromosome deletion
Copy number
Copy number variations
Disease
DNA Copy Number Variations
Female
Gene expression
Genetic aspects
Genomics
Genotype & phenotype
Human motion
Humans
Life expectancy
Male
mRNA
Muscular Atrophy, Spinal - blood
Muscular Atrophy, Spinal - diagnosis
Muscular Atrophy, Spinal - genetics
Mutation
Neuromuscular diseases
Neurons
Neurosciences
Oncology
Patients
Peripheral blood
Pharmaceuticals
Prognosis
Proteins
Real-Time Polymerase Chain Reaction
SMN protein
Spinal muscular atrophy
Survival of Motor Neuron 1 Protein - blood
Survival of Motor Neuron 1 Protein - genetics
Survival of Motor Neuron 2 Protein - blood
Survival of Motor Neuron 2 Protein - genetics
Young Adult
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Summary: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.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0139950