Olfactory dysfunction and altered cortical excitability in the mouse model of Fragile X Syndrome

Abstract Fragile X Syndrome (FXS) is the most common monogenetic cause of autism and inherited intellectual disability. A key feature of FXS symptomatology is altered sensory processing greatly affecting FXS individual’s life quality. Here, we use a combination of behavioral tests and slice physiolo...

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Main Authors: Felipe Arancibia, Marcelo Rojas, Diego Becerra, Rocío Fuenzalida, Christian Cea-Del Rio, Jorge Mpodozis, Magdalena Sanhueza, Alexia Nunez-Parra
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Biological Research
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Online Access:https://doi.org/10.1186/s40659-024-00582-2
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author Felipe Arancibia
Marcelo Rojas
Diego Becerra
Rocío Fuenzalida
Christian Cea-Del Rio
Jorge Mpodozis
Magdalena Sanhueza
Alexia Nunez-Parra
author_facet Felipe Arancibia
Marcelo Rojas
Diego Becerra
Rocío Fuenzalida
Christian Cea-Del Rio
Jorge Mpodozis
Magdalena Sanhueza
Alexia Nunez-Parra
author_sort Felipe Arancibia
collection DOAJ
description Abstract Fragile X Syndrome (FXS) is the most common monogenetic cause of autism and inherited intellectual disability. A key feature of FXS symptomatology is altered sensory processing greatly affecting FXS individual’s life quality. Here, we use a combination of behavioral tests and slice physiology tools to study the neurophysiological alterations underlying aberrant sensory processing in the olfactory system of the FXS mouse model (Fmr1 KO). We focused on the piriform cortex (PC), since it is in this brain region where olfactory information is integrated and ultimately decoded. Using a go-no go behavioral task we have found that Fmr1 KO learn to discriminate between a rewarded and a not rewarded odorant but cannot distinguish complex odor mixtures, akin to what is found in the environment. Moreover, Fmr1 KO long-term memory is impaired compared to control mice suggesting possibly cortical processing alterations. In addition, electrophysiological data from PC layer II neurons of Fmr1 KO mice showed a hyperexcitable phenotype manifested by differences in active membrane properties and altered network connectivity. Taken together, our data suggest a possible causal link between the observed olfactory discrimination deficiencies in the Fmr1 KO mouse and the altered physiology of PC.
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institution Kabale University
issn 0717-6287
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publishDate 2025-04-01
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spelling doaj-art-31a50c4fdb034a7596682e8a1ce6e8fc2025-08-20T03:53:08ZengBMCBiological Research0717-62872025-04-0158111910.1186/s40659-024-00582-2Olfactory dysfunction and altered cortical excitability in the mouse model of Fragile X SyndromeFelipe Arancibia0Marcelo Rojas1Diego Becerra2Rocío Fuenzalida3Christian Cea-Del Rio4Jorge Mpodozis5Magdalena Sanhueza6Alexia Nunez-Parra7Cellular Physiology Laboratory, Biology Department, Faculty of Science, Universidad de ChileCellular Physiology Laboratory, Biology Department, Faculty of Science, Universidad de ChileCellular Physiology Laboratory, Biology Department, Faculty of Science, Universidad de ChileCellular Physiology Laboratory, Biology Department, Faculty of Science, Universidad de ChileNeurophysiopathology Laboratory, Center for Biomedical and Applied Research, School of Medicine, Faculty of Medical Sciences, Universidad de Santiago de ChileNeurobiology Laboratory, Biology Department, Faculty of Science, Universidad de ChileCellular Physiology Laboratory, Biology Department, Faculty of Science, Universidad de ChileCellular Physiology Laboratory, Biology Department, Faculty of Science, Universidad de ChileAbstract Fragile X Syndrome (FXS) is the most common monogenetic cause of autism and inherited intellectual disability. A key feature of FXS symptomatology is altered sensory processing greatly affecting FXS individual’s life quality. Here, we use a combination of behavioral tests and slice physiology tools to study the neurophysiological alterations underlying aberrant sensory processing in the olfactory system of the FXS mouse model (Fmr1 KO). We focused on the piriform cortex (PC), since it is in this brain region where olfactory information is integrated and ultimately decoded. Using a go-no go behavioral task we have found that Fmr1 KO learn to discriminate between a rewarded and a not rewarded odorant but cannot distinguish complex odor mixtures, akin to what is found in the environment. Moreover, Fmr1 KO long-term memory is impaired compared to control mice suggesting possibly cortical processing alterations. In addition, electrophysiological data from PC layer II neurons of Fmr1 KO mice showed a hyperexcitable phenotype manifested by differences in active membrane properties and altered network connectivity. Taken together, our data suggest a possible causal link between the observed olfactory discrimination deficiencies in the Fmr1 KO mouse and the altered physiology of PC.https://doi.org/10.1186/s40659-024-00582-2Sensory processingAutism spectrum disorder (ASD)Fmr1 KOPerceptual stabilityOlfactory discrimination
spellingShingle Felipe Arancibia
Marcelo Rojas
Diego Becerra
Rocío Fuenzalida
Christian Cea-Del Rio
Jorge Mpodozis
Magdalena Sanhueza
Alexia Nunez-Parra
Olfactory dysfunction and altered cortical excitability in the mouse model of Fragile X Syndrome
Biological Research
Sensory processing
Autism spectrum disorder (ASD)
Fmr1 KO
Perceptual stability
Olfactory discrimination
title Olfactory dysfunction and altered cortical excitability in the mouse model of Fragile X Syndrome
title_full Olfactory dysfunction and altered cortical excitability in the mouse model of Fragile X Syndrome
title_fullStr Olfactory dysfunction and altered cortical excitability in the mouse model of Fragile X Syndrome
title_full_unstemmed Olfactory dysfunction and altered cortical excitability in the mouse model of Fragile X Syndrome
title_short Olfactory dysfunction and altered cortical excitability in the mouse model of Fragile X Syndrome
title_sort olfactory dysfunction and altered cortical excitability in the mouse model of fragile x syndrome
topic Sensory processing
Autism spectrum disorder (ASD)
Fmr1 KO
Perceptual stability
Olfactory discrimination
url https://doi.org/10.1186/s40659-024-00582-2
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