Neuronal Plasticity-Dependent Paradigm and Young Plasma Treatment Prevent Synaptic and Motor Deficit in a Rett Syndrome Mouse Model

Classical Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the <i>MECP2</i> gene, resulting in a devastating phenotype associated with a lack of gene expression control. Mouse models lacking <i>Mecp2</i> expression with an RTT-like phenotype have be...

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Main Authors: Sofía Espinoza, Camila Navia, Rodrigo F. Torres, Nuria Llontop, Verónica Valladares, Cristina Silva, Ariel Vivero, Exequiel Novoa-Padilla, Jessica Soto-Covasich, Jessica Mella, Ricardo Kouro, Sharin Valdivia, Marco Pérez-Bustamante, Patricia Ojeda-Provoste, Nancy Pineda, Sonja Buvinic, Dasfne Lee-Liu, Juan Pablo Henríquez, Bredford Kerr
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Language:English
Published: MDPI AG 2025-05-01
Series:Biomolecules
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Online Access:https://www.mdpi.com/2218-273X/15/5/748
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author Sofía Espinoza
Camila Navia
Rodrigo F. Torres
Nuria Llontop
Verónica Valladares
Cristina Silva
Ariel Vivero
Exequiel Novoa-Padilla
Jessica Soto-Covasich
Jessica Mella
Ricardo Kouro
Sharin Valdivia
Marco Pérez-Bustamante
Patricia Ojeda-Provoste
Nancy Pineda
Sonja Buvinic
Dasfne Lee-Liu
Juan Pablo Henríquez
Bredford Kerr
author_facet Sofía Espinoza
Camila Navia
Rodrigo F. Torres
Nuria Llontop
Verónica Valladares
Cristina Silva
Ariel Vivero
Exequiel Novoa-Padilla
Jessica Soto-Covasich
Jessica Mella
Ricardo Kouro
Sharin Valdivia
Marco Pérez-Bustamante
Patricia Ojeda-Provoste
Nancy Pineda
Sonja Buvinic
Dasfne Lee-Liu
Juan Pablo Henríquez
Bredford Kerr
author_sort Sofía Espinoza
collection DOAJ
description Classical Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the <i>MECP2</i> gene, resulting in a devastating phenotype associated with a lack of gene expression control. Mouse models lacking <i>Mecp2</i> expression with an RTT-like phenotype have been developed to advance therapeutic alternatives. Environmental enrichment (EE) attenuates RTT symptoms in patients and mouse models. However, the mechanisms underlying the effects of EE on RTT have not been fully elucidated. We housed male hemizygous <i>Mecp2</i>-null (<i>Mecp2<sup>-/y</sup></i>) and wild-type mice in specially conditioned cages to enhance sensory, cognitive, social, and motor stimulation. EE attenuated the progression of the RTT phenotype by preserving neuronal cytoarchitecture and neural plasticity markers. Furthermore, EE ameliorated defects in neuromuscular junction organization and restored the motor deficit of <i>Mecp2<sup>-/y</sup></i> mice. Treatment with plasma from young WT mice was used to assess whether the increased activity could modify plasma components, mimicking the benefits of EE in <i>Mecp2<sup>-/y</sup></i>. Plasma treatment attenuated the RTT phenotype by improving neurological markers, suggesting that peripheral signals of mice with normal motor function have the potential to reactivate dormant neurodevelopment in RTT mice. These findings demonstrate how EE and treatment with young plasma ameliorate RTT-like phenotype in mice, opening new therapeutical approaches for RTT patients.
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spelling doaj-art-f12f50f7cdda495eb72bcf3e7f9d7b9a2025-08-20T03:47:53ZengMDPI AGBiomolecules2218-273X2025-05-0115574810.3390/biom15050748Neuronal Plasticity-Dependent Paradigm and Young Plasma Treatment Prevent Synaptic and Motor Deficit in a Rett Syndrome Mouse ModelSofía Espinoza0Camila Navia1Rodrigo F. Torres2Nuria Llontop3Verónica Valladares4Cristina Silva5Ariel Vivero6Exequiel Novoa-Padilla7Jessica Soto-Covasich8Jessica Mella9Ricardo Kouro10Sharin Valdivia11Marco Pérez-Bustamante12Patricia Ojeda-Provoste13Nancy Pineda14Sonja Buvinic15Dasfne Lee-Liu16Juan Pablo Henríquez17Bredford Kerr18Centro de Biología Celular y Biomedicina (CEBICEM), Facultad de Medicina y Ciencia, Universidad San Sebastián, Providencia, Santiago 7510157, ChileCentro de Estudios Científicos (CECs), Valdivia 5110466, ChileCentro de Estudios Científicos (CECs), Valdivia 5110466, ChileCentro de Biología Celular y Biomedicina (CEBICEM), Facultad de Medicina y Ciencia, Universidad San Sebastián, Providencia, Santiago 7510157, ChileCentro de Biología Celular y Biomedicina (CEBICEM), Facultad de Medicina y Ciencia, Universidad San Sebastián, Providencia, Santiago 7510157, ChileCentro de Biología Celular y Biomedicina (CEBICEM), Facultad de Medicina y Ciencia, Universidad San Sebastián, Providencia, Santiago 7510157, ChileCentro de Biología Celular y Biomedicina (CEBICEM), Facultad de Medicina y Ciencia, Universidad San Sebastián, Providencia, Santiago 7510157, ChileCentro de Estudios Científicos (CECs), Valdivia 5110466, ChileCentro de Estudios Científicos (CECs), Valdivia 5110466, ChileNeuromuscular Studies Laboratory (NeSt Lab), Instituto de Anatomía, Histología y Patología, Facultad de Medicina, Universidad Austral de Chile, Valdivia 5091000, ChileCentro de Estudios Científicos (CECs), Valdivia 5110466, ChileCentro de Estudios Científicos (CECs), Valdivia 5110466, ChileCentro de Estudios Científicos (CECs), Valdivia 5110466, ChileCentro de Estudios Científicos (CECs), Valdivia 5110466, ChileCentro de Estudios Científicos (CECs), Valdivia 5110466, ChileFacultad de Odontología, Universidad de Chile, Santiago 8380000, ChileEscuela de Química y Farmacia, Facultad de Medicina y Ciencia, Universidad San Sebastián, Santiago 7510157, ChileNeuromuscular Studies Laboratory (NeSt Lab), Instituto de Anatomía, Histología y Patología, Facultad de Medicina, Universidad Austral de Chile, Valdivia 5091000, ChileCentro de Biología Celular y Biomedicina (CEBICEM), Facultad de Medicina y Ciencia, Universidad San Sebastián, Providencia, Santiago 7510157, ChileClassical Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the <i>MECP2</i> gene, resulting in a devastating phenotype associated with a lack of gene expression control. Mouse models lacking <i>Mecp2</i> expression with an RTT-like phenotype have been developed to advance therapeutic alternatives. Environmental enrichment (EE) attenuates RTT symptoms in patients and mouse models. However, the mechanisms underlying the effects of EE on RTT have not been fully elucidated. We housed male hemizygous <i>Mecp2</i>-null (<i>Mecp2<sup>-/y</sup></i>) and wild-type mice in specially conditioned cages to enhance sensory, cognitive, social, and motor stimulation. EE attenuated the progression of the RTT phenotype by preserving neuronal cytoarchitecture and neural plasticity markers. Furthermore, EE ameliorated defects in neuromuscular junction organization and restored the motor deficit of <i>Mecp2<sup>-/y</sup></i> mice. Treatment with plasma from young WT mice was used to assess whether the increased activity could modify plasma components, mimicking the benefits of EE in <i>Mecp2<sup>-/y</sup></i>. Plasma treatment attenuated the RTT phenotype by improving neurological markers, suggesting that peripheral signals of mice with normal motor function have the potential to reactivate dormant neurodevelopment in RTT mice. These findings demonstrate how EE and treatment with young plasma ameliorate RTT-like phenotype in mice, opening new therapeutical approaches for RTT patients.https://www.mdpi.com/2218-273X/15/5/748Rett syndrome<i>Mecp2</i>environmental enrichmentplasma treatment
spellingShingle Sofía Espinoza
Camila Navia
Rodrigo F. Torres
Nuria Llontop
Verónica Valladares
Cristina Silva
Ariel Vivero
Exequiel Novoa-Padilla
Jessica Soto-Covasich
Jessica Mella
Ricardo Kouro
Sharin Valdivia
Marco Pérez-Bustamante
Patricia Ojeda-Provoste
Nancy Pineda
Sonja Buvinic
Dasfne Lee-Liu
Juan Pablo Henríquez
Bredford Kerr
Neuronal Plasticity-Dependent Paradigm and Young Plasma Treatment Prevent Synaptic and Motor Deficit in a Rett Syndrome Mouse Model
Biomolecules
Rett syndrome
<i>Mecp2</i>
environmental enrichment
plasma treatment
title Neuronal Plasticity-Dependent Paradigm and Young Plasma Treatment Prevent Synaptic and Motor Deficit in a Rett Syndrome Mouse Model
title_full Neuronal Plasticity-Dependent Paradigm and Young Plasma Treatment Prevent Synaptic and Motor Deficit in a Rett Syndrome Mouse Model
title_fullStr Neuronal Plasticity-Dependent Paradigm and Young Plasma Treatment Prevent Synaptic and Motor Deficit in a Rett Syndrome Mouse Model
title_full_unstemmed Neuronal Plasticity-Dependent Paradigm and Young Plasma Treatment Prevent Synaptic and Motor Deficit in a Rett Syndrome Mouse Model
title_short Neuronal Plasticity-Dependent Paradigm and Young Plasma Treatment Prevent Synaptic and Motor Deficit in a Rett Syndrome Mouse Model
title_sort neuronal plasticity dependent paradigm and young plasma treatment prevent synaptic and motor deficit in a rett syndrome mouse model
topic Rett syndrome
<i>Mecp2</i>
environmental enrichment
plasma treatment
url https://www.mdpi.com/2218-273X/15/5/748
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