Rett syndrome and environmental enrichment as a potential therapy for attenuating the pathology

Autores
Tapia, Pablo; Kouro, Ricardo; Pérez, Marcos; Torres, Rodrigo; Espinoza, Sofía; Kerr, Bredford
Año de publicación
2019
Idioma
inglés
Tipo de recurso
reseña artículo
Estado
versión publicada
Descripción
Rett syndrome (RTT) is a neurological disorder affecting the development of the central nervous system and one of the leading causes of mental retardation among young women. RTT patients exhibit microcephaly, decreased neuronal size, shorter cortical dendrite, and a reduced dendritic spine density; evidence strongly suggesting that a synaptic disorder underlies the neurological RTT-associated phenotype. MECP2 is a transcription factor with multiple roles on gene expression, and mutations in its gene coding sequence have been identified as the major cause of RTT. The generation of transgenic mouse models lacking the expression of Mecp2 has allowed getting insight into the physiopathological events associated with the loss of a fully functional Mecp2 allele in RTT patients and it has been demonstrated that is possible to partially rescue, or reverse, the phenotype associated with RTT which opens a window to explore therapeutic approaches plausible to be utilized in RTT patients. Considering that RTT patients exhibit reduced neuronal plasticity and synaptic disorder, this mini-review is focused on studies demonstrating the positive effect of an enriched environment on the RTT-like phenotype exhibited by mouse models of the disease.
Sociedad Argentina de Fisiología
Materia
Ciencias Médicas
Rett syndrome
RTT-like phenotype
Nivel de accesibilidad
acceso abierto
Condiciones de uso
http://creativecommons.org/licenses/by/4.0/
Repositorio
SEDICI (UNLP)
Institución
Universidad Nacional de La Plata
OAI Identificador
oai:sedici.unlp.edu.ar:10915/126795

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spelling Rett syndrome and environmental enrichment as a potential therapy for attenuating the pathologyTapia, PabloKouro, RicardoPérez, MarcosTorres, RodrigoEspinoza, SofíaKerr, BredfordCiencias MédicasRett syndromeRTT-like phenotypeRett syndrome (RTT) is a neurological disorder affecting the development of the central nervous system and one of the leading causes of mental retardation among young women. RTT patients exhibit microcephaly, decreased neuronal size, shorter cortical dendrite, and a reduced dendritic spine density; evidence strongly suggesting that a synaptic disorder underlies the neurological RTT-associated phenotype. MECP2 is a transcription factor with multiple roles on gene expression, and mutations in its gene coding sequence have been identified as the major cause of RTT. The generation of transgenic mouse models lacking the expression of Mecp2 has allowed getting insight into the physiopathological events associated with the loss of a fully functional Mecp2 allele in RTT patients and it has been demonstrated that is possible to partially rescue, or reverse, the phenotype associated with RTT which opens a window to explore therapeutic approaches plausible to be utilized in RTT patients. Considering that RTT patients exhibit reduced neuronal plasticity and synaptic disorder, this mini-review is focused on studies demonstrating the positive effect of an enriched environment on the RTT-like phenotype exhibited by mouse models of the disease.Sociedad Argentina de Fisiología2019-10info:eu-repo/semantics/reviewinfo:eu-repo/semantics/publishedVersionRevisionhttp://purl.org/coar/resource_type/c_dcae04bcinfo:ar-repo/semantics/resenaArticuloapplication/pdf58 - 68http://sedici.unlp.edu.ar/handle/10915/126795enginfo:eu-repo/semantics/altIdentifier/url/https://pmr.safisiol.org.ar/archive/id/114info:eu-repo/semantics/altIdentifier/issn/1669-5410info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by/4.0/Creative Commons Attribution 4.0 International (CC BY 4.0)reponame:SEDICI (UNLP)instname:Universidad Nacional de La Platainstacron:UNLP2025-09-29T11:30:37Zoai:sedici.unlp.edu.ar:10915/126795Institucionalhttp://sedici.unlp.edu.ar/Universidad públicaNo correspondehttp://sedici.unlp.edu.ar/oai/snrdalira@sedici.unlp.edu.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:13292025-09-29 11:30:37.846SEDICI (UNLP) - Universidad Nacional de La Platafalse
dc.title.none.fl_str_mv Rett syndrome and environmental enrichment as a potential therapy for attenuating the pathology
title Rett syndrome and environmental enrichment as a potential therapy for attenuating the pathology
spellingShingle Rett syndrome and environmental enrichment as a potential therapy for attenuating the pathology
Tapia, Pablo
Ciencias Médicas
Rett syndrome
RTT-like phenotype
title_short Rett syndrome and environmental enrichment as a potential therapy for attenuating the pathology
title_full Rett syndrome and environmental enrichment as a potential therapy for attenuating the pathology
title_fullStr Rett syndrome and environmental enrichment as a potential therapy for attenuating the pathology
title_full_unstemmed Rett syndrome and environmental enrichment as a potential therapy for attenuating the pathology
title_sort Rett syndrome and environmental enrichment as a potential therapy for attenuating the pathology
dc.creator.none.fl_str_mv Tapia, Pablo
Kouro, Ricardo
Pérez, Marcos
Torres, Rodrigo
Espinoza, Sofía
Kerr, Bredford
author Tapia, Pablo
author_facet Tapia, Pablo
Kouro, Ricardo
Pérez, Marcos
Torres, Rodrigo
Espinoza, Sofía
Kerr, Bredford
author_role author
author2 Kouro, Ricardo
Pérez, Marcos
Torres, Rodrigo
Espinoza, Sofía
Kerr, Bredford
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv Ciencias Médicas
Rett syndrome
RTT-like phenotype
topic Ciencias Médicas
Rett syndrome
RTT-like phenotype
dc.description.none.fl_txt_mv Rett syndrome (RTT) is a neurological disorder affecting the development of the central nervous system and one of the leading causes of mental retardation among young women. RTT patients exhibit microcephaly, decreased neuronal size, shorter cortical dendrite, and a reduced dendritic spine density; evidence strongly suggesting that a synaptic disorder underlies the neurological RTT-associated phenotype. MECP2 is a transcription factor with multiple roles on gene expression, and mutations in its gene coding sequence have been identified as the major cause of RTT. The generation of transgenic mouse models lacking the expression of Mecp2 has allowed getting insight into the physiopathological events associated with the loss of a fully functional Mecp2 allele in RTT patients and it has been demonstrated that is possible to partially rescue, or reverse, the phenotype associated with RTT which opens a window to explore therapeutic approaches plausible to be utilized in RTT patients. Considering that RTT patients exhibit reduced neuronal plasticity and synaptic disorder, this mini-review is focused on studies demonstrating the positive effect of an enriched environment on the RTT-like phenotype exhibited by mouse models of the disease.
Sociedad Argentina de Fisiología
description Rett syndrome (RTT) is a neurological disorder affecting the development of the central nervous system and one of the leading causes of mental retardation among young women. RTT patients exhibit microcephaly, decreased neuronal size, shorter cortical dendrite, and a reduced dendritic spine density; evidence strongly suggesting that a synaptic disorder underlies the neurological RTT-associated phenotype. MECP2 is a transcription factor with multiple roles on gene expression, and mutations in its gene coding sequence have been identified as the major cause of RTT. The generation of transgenic mouse models lacking the expression of Mecp2 has allowed getting insight into the physiopathological events associated with the loss of a fully functional Mecp2 allele in RTT patients and it has been demonstrated that is possible to partially rescue, or reverse, the phenotype associated with RTT which opens a window to explore therapeutic approaches plausible to be utilized in RTT patients. Considering that RTT patients exhibit reduced neuronal plasticity and synaptic disorder, this mini-review is focused on studies demonstrating the positive effect of an enriched environment on the RTT-like phenotype exhibited by mouse models of the disease.
publishDate 2019
dc.date.none.fl_str_mv 2019-10
dc.type.none.fl_str_mv info:eu-repo/semantics/review
info:eu-repo/semantics/publishedVersion
Revision
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info:ar-repo/semantics/resenaArticulo
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status_str publishedVersion
dc.identifier.none.fl_str_mv http://sedici.unlp.edu.ar/handle/10915/126795
url http://sedici.unlp.edu.ar/handle/10915/126795
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://pmr.safisiol.org.ar/archive/id/114
info:eu-repo/semantics/altIdentifier/issn/1669-5410
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
http://creativecommons.org/licenses/by/4.0/
Creative Commons Attribution 4.0 International (CC BY 4.0)
eu_rights_str_mv openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/
Creative Commons Attribution 4.0 International (CC BY 4.0)
dc.format.none.fl_str_mv application/pdf
58 - 68
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repository.name.fl_str_mv SEDICI (UNLP) - Universidad Nacional de La Plata
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