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

Abstract：

: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.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Arakawa M,Arakawa R,Tatsumi S,Aoki R,Saito K,Nomoto A

doi

10.1016/j.bbrc.2014.09.087

subject

Has Abstract

pub_date

2014-10-24 00:00:00

pages

368-74

issue

3

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(14)01715-X

journal_volume

453

pub_type

杂志文章

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