A new biomarker candidate for spinal muscular atrophy: Identification of a peripheral blood cell population capable of monitoring the level of survival motor neuron protein
| Autor: | Masayuki Arakawa, Noriko Otsuki, Kayoko Saito, Ryoko Aoki, Reiko Arakawa, Kaori Kaneko |
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| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine CD3 Complex Physiology animal diseases Sialic Acid Binding Ig-like Lectin 3 Protein Expression lcsh:Medicine Biochemistry Monocytes White Blood Cells Spectrum Analysis Techniques Animal Cells Medicine and Health Sciences Child lcsh:Science Neurons Motor Neurons Staining education.field_of_study Multidisciplinary biology medicine.diagnostic_test Cell Staining Middle Aged Flow Cytometry SMA Body Fluids Survival of Motor Neuron 2 Protein Blood medicine.anatomical_structure Spectrophotometry Child Preschool Biomarker (medicine) Female Cytophotometry Cellular Types Anatomy Research Article Adult Adolescent Imaging Techniques Immune Cells Antigens CD19 Immunology Population Research and Analysis Methods CD19 Flow cytometry Muscular Atrophy Spinal Young Adult 03 medical and health sciences Fluorescence Imaging Gene Expression and Vector Techniques medicine Humans Peripheral blood cell Molecular Biology Techniques education Molecular Biology Molecular Biology Assays and Analysis Techniques Blood Cells business.industry lcsh:R Infant Biology and Life Sciences Cell Biology Spinal muscular atrophy Motor neuron medicine.disease Survival of Motor Neuron 1 Protein nervous system diseases 030104 developmental biology nervous system Specimen Preparation and Treatment Cellular Neuroscience Cancer research biology.protein lcsh:Q business Biomarkers Neuroscience |
| Zdroj: | PLoS ONE, Vol 13, Iss 8, p e0201764 (2018) PLoS ONE |
| ISSN: | 1932-6203 |
| Popis: | Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder caused by insufficiency of functional survival motor neuron (SMN) protein. Several clinical trials have been conducted with the aim of upregulating the expression of the SMN protein in SMA patients. In order to evaluate the efficiency of these SMN-targeted approaches, it has become necessary to verify SMN protein levels in the cells of SMA patients. Accordingly, we have developed a method allowing the evaluation of the functional SMN protein with < 1.5 mL of peripheral blood using imaging flow cytometry. The expression of SMN protein in CD3+, CD19+, and CD33++ cells obtained from SMA patients, was significantly reduced compared with that in cells from control subjects. In spot analysis of CD33++ cells, the intensities of SMN spots were significantly reduced in SMA subjects, when compared with that in controls. Therefore, SMN spots implied the presence of functional SMN protein in the cell nucleus. To our knowledge, our results are the first to demonstrate the presence of functional SMN protein in freshly isolated peripheral blood cells. We anticipate that SMN spot analysis will become the primary endpoint assay for the evaluation and monitoring of therapeutic intervention, with SMN serving as a reliable biomarker of therapeutic efficacy in SMA patients. |
| Databáze: | OpenAIRE |
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