A novel evaluation method of survival motor neuron protein as a biomarker of spinal muscular atrophy by imaging flow cytometry

作者：Arakawa Masayuki^*; Arakawa Reiko; Tatsumi Shinichi; Aoki Ryoko; Saito Kayoko; Nomoto Akio

来源：Biochemical and Biophysical Research Communications, 2014, 453(3): 368-374.

DOI：10.1016/j.bbrc.2014.09.087

• Spinal muscular atrophy
• Survival motor protein
• Biomarker
• Imaging flow cytometry
• Valproic acid

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.

• 出版日期2014-10-24
• 单位河北医科大学