A novel evaluation method of survival motor neuron protein as a biomarker of spinal muscular atrophy by imaging flow cytometry.
Spinal muscular atrophy (SMA) is caused by mutations within the survival motor neuron 1 (SMN1) gene. These mutations result in the reduction of survival motor neuron (SMN) protein expression and SMN complex in spinal motor neurons and other tissues. SMN protein has been used as a therapeutic biomarker in recent SMA clinical studies using enzyme-linked immunosorbent assay (ELISA). Here, we investigated whether imaging flow cytometry can be a viable source of quantitative information on the SMN protein. Using a FlowSight imaging flow cytometer (Merck-Millipore, Germany), we demonstrated that imaging flow cytometry could successfully identify different expression patterns and subcellular localization of SMN protein in healthy human fibroblasts and SMA patient-derived fibroblasts. In addition, we could also evaluate the therapeutic effects of SMN protein expression by valproic acid treatment of SMA patient-derived cells in vitro. Therefore, we suggest that imaging flow cytometry technology has the potential for identifying SMN protein expression level and pattern as an evaluation tool of clinical studies.
['Arakawa|Masayuki|M|', 'Arakawa|Reiko|R|', 'Tatsumi|Shinichi|S|', 'Aoki|Ryoko|R|', 'Saito|Kayoko|K|', 'Nomoto|Akio|A|']
D001483:Base Sequence D015415:Biomarkers D002478:Cells, Cultured D017931:DNA Primers D004797:Enzyme-Linked Immunosorbent Assay D005434:Flow Cytometry D006801:Humans D009134:Muscular Atrophy, Spinal D020133:Reverse Transcriptase Polymerase Chain Reaction D013347:Subcellular Fractions D055533:Survival of Motor Neuron 1 Protein
Biomarker Spinal muscular atrophy Imaging flow cytometry Valproic acid Survival motor protein