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miRNA in spinal muscular atrophy pathogenesis and therapy

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by the selective death of lower motor neurons in the brain stem and spinal cord. SMA is caused by mutations in the survival motor neuron 1 gene (SMN1), leading to the reduced expression of the full‐length...

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Autores principales: Magri, Francesca, Vanoli, Fiammetta, Corti, Stefania
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5783860/
https://www.ncbi.nlm.nih.gov/pubmed/29160009
http://dx.doi.org/10.1111/jcmm.13450
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author Magri, Francesca
Vanoli, Fiammetta
Corti, Stefania
author_facet Magri, Francesca
Vanoli, Fiammetta
Corti, Stefania
author_sort Magri, Francesca
collection PubMed
description Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by the selective death of lower motor neurons in the brain stem and spinal cord. SMA is caused by mutations in the survival motor neuron 1 gene (SMN1), leading to the reduced expression of the full‐length SMN protein. microRNAs (miRNAs) are small RNAs that regulate post‐transcriptional gene expression. Recent findings have suggested an important role for miRNAs in the pathogenesis of motor neuron diseases, including SMA. Motor neuron‐specific miRNA dysregulation in SMA might be implicated in their selective vulnerability. In this study, we discuss recent findings regarding the consequences of SMN defects on miRNAs and their target mRNAs in motor neurons. Taken together, these data suggest that cell‐specific changes in miRNAs are not only involved in the SMA motor neuron phenotype but can also be used as biomarkers and therapeutic targets.
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spelling pubmed-57838602018-02-08 miRNA in spinal muscular atrophy pathogenesis and therapy Magri, Francesca Vanoli, Fiammetta Corti, Stefania J Cell Mol Med Reviews Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by the selective death of lower motor neurons in the brain stem and spinal cord. SMA is caused by mutations in the survival motor neuron 1 gene (SMN1), leading to the reduced expression of the full‐length SMN protein. microRNAs (miRNAs) are small RNAs that regulate post‐transcriptional gene expression. Recent findings have suggested an important role for miRNAs in the pathogenesis of motor neuron diseases, including SMA. Motor neuron‐specific miRNA dysregulation in SMA might be implicated in their selective vulnerability. In this study, we discuss recent findings regarding the consequences of SMN defects on miRNAs and their target mRNAs in motor neurons. Taken together, these data suggest that cell‐specific changes in miRNAs are not only involved in the SMA motor neuron phenotype but can also be used as biomarkers and therapeutic targets. John Wiley and Sons Inc. 2017-11-21 2018-02 /pmc/articles/PMC5783860/ /pubmed/29160009 http://dx.doi.org/10.1111/jcmm.13450 Text en © 2017 The Authors. Journal of Cellular and Molecular Medicine published by John Wiley & Sons Ltd and Foundation for Cellular and Molecular Medicine. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Reviews
Magri, Francesca
Vanoli, Fiammetta
Corti, Stefania
miRNA in spinal muscular atrophy pathogenesis and therapy
title miRNA in spinal muscular atrophy pathogenesis and therapy
title_full miRNA in spinal muscular atrophy pathogenesis and therapy
title_fullStr miRNA in spinal muscular atrophy pathogenesis and therapy
title_full_unstemmed miRNA in spinal muscular atrophy pathogenesis and therapy
title_short miRNA in spinal muscular atrophy pathogenesis and therapy
title_sort mirna in spinal muscular atrophy pathogenesis and therapy
topic Reviews
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5783860/
https://www.ncbi.nlm.nih.gov/pubmed/29160009
http://dx.doi.org/10.1111/jcmm.13450
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