Functional ultrasound and brain connectivity reveal central nervous system compromise in Trembler-J mice model of Charcot-Marie-Tooth disease

Abstract The Charcot-Marie-Tooth-1E (CMT1E) disease is typically described as a peripheral neuropathy in humans, causing decreased nerve conduction, spastic paralysis, and tremor. The Trembler-J (TrJ) mice serve as a high fidelity model of this disease. Here, we use functional ultrasound (fUS) and f...

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Main Authors: Maximiliano Anzibar Fialho, Mariana Martínez Barreiro, Lucia Vázquez Alberdi, Juan Pablo Damián, Maria Vittoria Di Tomaso, Jérôme Baranger, Mickael Tanter, Miguel Calero, Carlos Negreira, Nicolás Rubido, Alejandra Kun, Javier Brum
Format: Article
Language:English
Published: Nature Portfolio 2024-12-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-024-80022-z
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author Maximiliano Anzibar Fialho
Mariana Martínez Barreiro
Lucia Vázquez Alberdi
Juan Pablo Damián
Maria Vittoria Di Tomaso
Jérôme Baranger
Mickael Tanter
Miguel Calero
Carlos Negreira
Nicolás Rubido
Alejandra Kun
Javier Brum
author_facet Maximiliano Anzibar Fialho
Mariana Martínez Barreiro
Lucia Vázquez Alberdi
Juan Pablo Damián
Maria Vittoria Di Tomaso
Jérôme Baranger
Mickael Tanter
Miguel Calero
Carlos Negreira
Nicolás Rubido
Alejandra Kun
Javier Brum
author_sort Maximiliano Anzibar Fialho
collection DOAJ
description Abstract The Charcot-Marie-Tooth-1E (CMT1E) disease is typically described as a peripheral neuropathy in humans, causing decreased nerve conduction, spastic paralysis, and tremor. The Trembler-J (TrJ) mice serve as a high fidelity model of this disease. Here, we use functional ultrasound (fUS) and functional connectivity (FC) to analyze TrJ mice’s brain activity during sensory stimulation and resting state experiments against wild type (WT) mice - the healthy counterpart. fUS is an imaging technique that measures cerebral blood volume (CBV) temporal changes. We study these changes in the primary somatosensory cortex barrel field (S1BF) of both mice populations during periodic vibrissae stimulation, measuring the number of pixels that correlate to the stimulation (i.e., the size of the activation area), the average correlation of these pixels (i.e., the response strength), and the CBV’s rate of change for each stimulation (i.e., the hemodynamic response). Then, we construct a FC matrix for each genotype and experiment by correlating the CBV signals from the eight cortical regions defined by the Paxinos and Franklin atlas. Our results show that TrJ mice have significantly diminished neurovascular responses and altered brain connectivity with respect to WT mice, pointing to central nervous system effects that could shift our understanding of the CMT1E disease.
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spelling doaj-art-21ce60f9727a4cfd9273b0a5a1cfff542024-12-08T12:27:40ZengNature PortfolioScientific Reports2045-23222024-12-0114111110.1038/s41598-024-80022-zFunctional ultrasound and brain connectivity reveal central nervous system compromise in Trembler-J mice model of Charcot-Marie-Tooth diseaseMaximiliano Anzibar Fialho0Mariana Martínez Barreiro1Lucia Vázquez Alberdi2Juan Pablo Damián3Maria Vittoria Di Tomaso4Jérôme Baranger5Mickael Tanter6Miguel Calero7Carlos Negreira8Nicolás Rubido9Alejandra Kun10Javier Brum11Laboratorio deAcústica Ultrasonora, Instituto de Física, Facultad de Ciencias, Universidad de la RepúblicaLaboratorio de Biología Celular del Sistema Nervioso Periférico, Departamento de Proteínas y ÁcidosNucleicos, Instituto de Investigaciones Biológicas Clemente EstableLaboratorio de Biología Celular del Sistema Nervioso Periférico, Departamento de Proteínas y ÁcidosNucleicos, Instituto de Investigaciones Biológicas Clemente EstableDepartamento de Biociencias Veterinarias, Facultad de Veterinaria, Universidad de la RepúblicaDepartamento de Genética, Instituto de Investigaciones Biológicas Clemente EstableInstitute Physics for Medicine Paris, Inserm U1273, ESPCI Paris, CNRS UMR 8063, PSL UniversityInstitute Physics for Medicine Paris, Inserm U1273, ESPCI Paris, CNRS UMR 8063, PSL UniversityChronic Disease Programme (UFIEC), and CIBERNED, Instituto de Salud Carlos IIILaboratorio deAcústica Ultrasonora, Instituto de Física, Facultad de Ciencias, Universidad de la RepúblicaInstitute for Complex Systems and Mathematical Biology, University of Aberdeen, King’s CollegeLaboratorio de Biología Celular del Sistema Nervioso Periférico, Departamento de Proteínas y ÁcidosNucleicos, Instituto de Investigaciones Biológicas Clemente EstableLaboratorio deAcústica Ultrasonora, Instituto de Física, Facultad de Ciencias, Universidad de la RepúblicaAbstract The Charcot-Marie-Tooth-1E (CMT1E) disease is typically described as a peripheral neuropathy in humans, causing decreased nerve conduction, spastic paralysis, and tremor. The Trembler-J (TrJ) mice serve as a high fidelity model of this disease. Here, we use functional ultrasound (fUS) and functional connectivity (FC) to analyze TrJ mice’s brain activity during sensory stimulation and resting state experiments against wild type (WT) mice - the healthy counterpart. fUS is an imaging technique that measures cerebral blood volume (CBV) temporal changes. We study these changes in the primary somatosensory cortex barrel field (S1BF) of both mice populations during periodic vibrissae stimulation, measuring the number of pixels that correlate to the stimulation (i.e., the size of the activation area), the average correlation of these pixels (i.e., the response strength), and the CBV’s rate of change for each stimulation (i.e., the hemodynamic response). Then, we construct a FC matrix for each genotype and experiment by correlating the CBV signals from the eight cortical regions defined by the Paxinos and Franklin atlas. Our results show that TrJ mice have significantly diminished neurovascular responses and altered brain connectivity with respect to WT mice, pointing to central nervous system effects that could shift our understanding of the CMT1E disease.https://doi.org/10.1038/s41598-024-80022-z
spellingShingle Maximiliano Anzibar Fialho
Mariana Martínez Barreiro
Lucia Vázquez Alberdi
Juan Pablo Damián
Maria Vittoria Di Tomaso
Jérôme Baranger
Mickael Tanter
Miguel Calero
Carlos Negreira
Nicolás Rubido
Alejandra Kun
Javier Brum
Functional ultrasound and brain connectivity reveal central nervous system compromise in Trembler-J mice model of Charcot-Marie-Tooth disease
Scientific Reports
title Functional ultrasound and brain connectivity reveal central nervous system compromise in Trembler-J mice model of Charcot-Marie-Tooth disease
title_full Functional ultrasound and brain connectivity reveal central nervous system compromise in Trembler-J mice model of Charcot-Marie-Tooth disease
title_fullStr Functional ultrasound and brain connectivity reveal central nervous system compromise in Trembler-J mice model of Charcot-Marie-Tooth disease
title_full_unstemmed Functional ultrasound and brain connectivity reveal central nervous system compromise in Trembler-J mice model of Charcot-Marie-Tooth disease
title_short Functional ultrasound and brain connectivity reveal central nervous system compromise in Trembler-J mice model of Charcot-Marie-Tooth disease
title_sort functional ultrasound and brain connectivity reveal central nervous system compromise in trembler j mice model of charcot marie tooth disease
url https://doi.org/10.1038/s41598-024-80022-z
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