Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

3D Light sheet microscopy reveals aging osteoarthritis-associated joint-innervated nerve remodeling in mouse knee joints.

Osteoarthritis and cartilage·2026

Same author

3D Light Sheet Microscopy Reveals Aging Osteoarthritis-associated Joint-innervated Nerve Remodeling in Mouse Knee Joints.

bioRxiv : the preprint server for biology·2026

Same author

Diagnostic Quandary of Granulomatosis With Polyangiitis Presenting First in the Petrous Apex.

Case reports in otolaryngology·2025

Same author

Lateral Migration of a Eustachian Tube Shim Into the Middle Ear.

The Laryngoscope·2025

Same author

Bottom-Up Fabrication of BN-Doped Graphene Electrodes from Thiol-Terminated Borazine Molecules Working in Solar Cells.

ACS applied materials & interfaces·2025

Same author

Glomus jugulotympanicum tumor treated with radiation therapy: A case report with review of literature.

Journal of clinical imaging science·2024

Search research articles

Related Experiment Video

Updated: Jul 19, 2025

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Published on: July 6, 2022

Cochlear Nucleus Transcriptome of a Fragile X Mouse Model Reveals Candidate Genes for Hyperacusis.

Hitomi Sakano^1,2,3, Michael S Castle¹, Paromita Kundu¹

¹Department of Otolaryngology, University of Rochester Medical Center, Rochester, New York, USA.

The Laryngoscope

|August 8, 2023

Summary

Fragile X Syndrome (FXS) causes auditory hypersensitivity due to FMRP loss. Gene expression changes in the cochlear nucleus of Fmr1-knockout mice reveal potential pathways for hyperacusis.

Keywords:

FMRP Fragile X KCNAB2 cochlear nucleus hyperacusis

More Related Videos

Data Acquisition and Analysis In Brainstem Evoked Response Audiometry In Mice

Data Acquisition and Analysis In Brainstem Evoked Response Audiometry In Mice

Published on: May 10, 2019

Determining Ultrasonic Vocalization Preferences in Mice using a Two-choice Playback Test

Determining Ultrasonic Vocalization Preferences in Mice using a Two-choice Playback Test

Published on: September 3, 2015

Related Experiment Videos

Last Updated: Jul 19, 2025

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Published on: July 6, 2022

Data Acquisition and Analysis In Brainstem Evoked Response Audiometry In Mice

Data Acquisition and Analysis In Brainstem Evoked Response Audiometry In Mice

Published on: May 10, 2019

Determining Ultrasonic Vocalization Preferences in Mice using a Two-choice Playback Test

Determining Ultrasonic Vocalization Preferences in Mice using a Two-choice Playback Test

Published on: September 3, 2015

Area of Science:

Neuroscience
Genetics
Auditory Science

Background:

Fragile X Syndrome (FXS) is an inherited autism spectrum disorder caused by FMR1 gene mutations.
Loss of Fragile X Mental Retardation Protein (FMRP) expression leads to auditory hypersensitivity, including hyperacusis in patients and seizures in mouse models.
FMRP is crucial in auditory brainstem nuclei, suggesting a role in auditory processing.

Purpose of the Study:

To investigate alterations in gene expression within the cochlear nucleus of the Fmr1-knockout (KO) mouse model.
To identify specific genes and pathways affected by FMRP deficiency that may underlie auditory hypersensitivity in FXS.

Main Methods:

RNA sequencing (RNA-seq) was performed on cochlear nuclei from Fmr1-KO and wild-type (WT) mice.
Transcriptomes were compared to identify differentially expressed genes using gene ontology analysis.

Main Results:

270 unique differentially expressed genes were identified between Fmr1-KO and WT cochlear nuclei.
Upregulated genes (67%) were enriched in secreted molecules.
Downregulated genes (33%) were enriched in neuronal and synaptic pathways, including Kcnab2, a potassium channel subunit.

Conclusions:

FMRP deficiency alters gene expression in the cochlear nucleus, impacting neuronal signaling pathways.
Reduced expression of Kcnab2 and other genes may contribute to the hyperacusis observed in FXS.
These findings provide potential molecular targets for understanding and treating auditory hypersensitivity in FXS.