Abnormalities in Early Markers of Muscle Involvement Support a Delay in Myogenesis in Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is characterized by loss of motor neurons in the spinal cord that results in muscle denervation and profound weakness in affected patients. We sought evidence for primary muscle involvement in the disease during human development by analyzing the expression of several m...

ver descrição completa

Detalhes bibliográficos
Autores: Martinez-Hernandez, R, Bernal, S, Alias, L, Tizzano, EF
Tipo de documento: artigo
Estado:Versão publicada
Data de publicação:2014
País:España
Recursos:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Repositório:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
OAI Identifier:oai:iibsantpau.fundanetsuite.com:p9295
Acesso em linha:https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9295
Access Level:Acceso aberto
Palavra-chave:Human development
Myosin
Pax7
Satellite cells
Skeletal muscle
Spinal muscular atrophy
Survival motor neuron 1 gene
id ES_9a7ca99f4e2aa3615b31ed7d6a02462a
oai_identifier_str oai:iibsantpau.fundanetsuite.com:p9295
network_acronym_str ES
network_name_str España
repository_id_str
spelling Abnormalities in Early Markers of Muscle Involvement Support a Delay in Myogenesis in Spinal Muscular AtrophyMartinez-Hernandez, RBernal, SAlias, LTizzano, EFHuman developmentMyosinPax7Satellite cellsSkeletal muscleSpinal muscular atrophySurvival motor neuron 1 geneSpinal muscular atrophy (SMA) is characterized by loss of motor neurons in the spinal cord that results in muscle denervation and profound weakness in affected patients. We sought evidence for primary muscle involvement in the disease during human development by analyzing the expression of several muscle cytoskeletal components (i.e. slow, fast, and developmental myosin, desmin, and vimentin) in fetal or postnatal skeletal muscle samples from 5 SMA cases and 6 controls. At 14 weeks' gestation, SMA samples had higher percentages of myotubes expressing fast myosin and lower percentages of myotubes expressing slow myosin versus control samples. Desmin and vimentin were highly expressed at prenatal stages without notable differences between control and SMA samples, although both proteins showed persistent immunostaining in atrophic fibers in postnatal SMA samples. We also studied the expression of Pax7-positive nuclei as a marker of satellite cells and found no differences between control and SMA prenatal samples. There was, however, a significant increase in satellite cells in postnatal atrophic SMA fibers, suggesting an abnormal myogenic process. Together, these results support the hypothesis of a delay in muscle maturation as one of the primary pathologic components of SMA. Furthermore, myosins and Pax7 may be useful research markers of muscle involvement in this disease.OXFORD UNIV PRESS INC2014info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9295JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGYISSN: 00223069ISSNe: 15546578reponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pauinstname:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)Inglésinfo:eu-repo/semantics/openAccessoai:iibsantpau.fundanetsuite.com:p92952026-06-14T12:41:47Z
dc.title.none.fl_str_mv Abnormalities in Early Markers of Muscle Involvement Support a Delay in Myogenesis in Spinal Muscular Atrophy
title Abnormalities in Early Markers of Muscle Involvement Support a Delay in Myogenesis in Spinal Muscular Atrophy
spellingShingle Abnormalities in Early Markers of Muscle Involvement Support a Delay in Myogenesis in Spinal Muscular Atrophy
Martinez-Hernandez, R
Human development
Myosin
Pax7
Satellite cells
Skeletal muscle
Spinal muscular atrophy
Survival motor neuron 1 gene
title_short Abnormalities in Early Markers of Muscle Involvement Support a Delay in Myogenesis in Spinal Muscular Atrophy
title_full Abnormalities in Early Markers of Muscle Involvement Support a Delay in Myogenesis in Spinal Muscular Atrophy
title_fullStr Abnormalities in Early Markers of Muscle Involvement Support a Delay in Myogenesis in Spinal Muscular Atrophy
title_full_unstemmed Abnormalities in Early Markers of Muscle Involvement Support a Delay in Myogenesis in Spinal Muscular Atrophy
title_sort Abnormalities in Early Markers of Muscle Involvement Support a Delay in Myogenesis in Spinal Muscular Atrophy
dc.creator.none.fl_str_mv Martinez-Hernandez, R
Bernal, S
Alias, L
Tizzano, EF
author Martinez-Hernandez, R
author_facet Martinez-Hernandez, R
Bernal, S
Alias, L
Tizzano, EF
author_role author
author2 Bernal, S
Alias, L
Tizzano, EF
author2_role author
author
author
dc.subject.none.fl_str_mv Human development
Myosin
Pax7
Satellite cells
Skeletal muscle
Spinal muscular atrophy
Survival motor neuron 1 gene
topic Human development
Myosin
Pax7
Satellite cells
Skeletal muscle
Spinal muscular atrophy
Survival motor neuron 1 gene
description Spinal muscular atrophy (SMA) is characterized by loss of motor neurons in the spinal cord that results in muscle denervation and profound weakness in affected patients. We sought evidence for primary muscle involvement in the disease during human development by analyzing the expression of several muscle cytoskeletal components (i.e. slow, fast, and developmental myosin, desmin, and vimentin) in fetal or postnatal skeletal muscle samples from 5 SMA cases and 6 controls. At 14 weeks' gestation, SMA samples had higher percentages of myotubes expressing fast myosin and lower percentages of myotubes expressing slow myosin versus control samples. Desmin and vimentin were highly expressed at prenatal stages without notable differences between control and SMA samples, although both proteins showed persistent immunostaining in atrophic fibers in postnatal SMA samples. We also studied the expression of Pax7-positive nuclei as a marker of satellite cells and found no differences between control and SMA prenatal samples. There was, however, a significant increase in satellite cells in postnatal atrophic SMA fibers, suggesting an abnormal myogenic process. Together, these results support the hypothesis of a delay in muscle maturation as one of the primary pathologic components of SMA. Furthermore, myosins and Pax7 may be useful research markers of muscle involvement in this disease.
publishDate 2014
dc.date.none.fl_str_mv 2014
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9295
url https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9295
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv OXFORD UNIV PRESS INC
publisher.none.fl_str_mv OXFORD UNIV PRESS INC
dc.source.none.fl_str_mv JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
ISSN: 00223069
ISSNe: 15546578
reponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
instname_str Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
reponame_str r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
collection r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869414408324644864
score 15,812429

Registros relacionados