Dissertation
Olfactory dysfunction in a mouse model of fragile X syndrome
Doctor of Philosophy (Ph.D.), Drexel University
Sep 2021
DOI:
https://doi.org/10.17918/00000866
Abstract
Fragile X syndrome (FXS) is the most common genetic autism-related disorder. FXS results from a loss of fragile X mental retardation protein (FMRP) due to mutations within the FMR1 gene. FXS is characterized by a collection of cognitive and behavioral symptoms including intellectual disability, seizures, autism, social anxiety, attention deficit, and hypersensitivity to sensory stimuli. Sensory abnormalities affect how an individual perceives external stimuli in their environment and these alterations in perception can under line many of the behaviors associated with the syndrome. Fmr1 null mice have altered responses within the olfactory cortex. FMRP is present in virtually every neuron within the olfactory system, including neurons within the olfactory cortex, olfactory bulb, and the peripheral olfactory sensory neurons (OSNs), suggesting that FMRP may play a role not only in odor processing but in odor detection as well. The limited investigations into olfactory hypersensitivity in FXS has largely focused on alterations in sensory processing in the central nervous system, but the role of the peripheral olfactory system is unexplored. We found we found Fmr1 null mice display altered olfactory dependent behaviors indicative of being hypersensitive to odors. Additionally, within the peripheral olfactory epithelium we found alterations consistent with mitochondrial dysfunction and enhanced odor induced responses. Together these data suggest dysfunctional mitochondria within the Fmr1 null olfactory epithelium could possibly contribute to the observed peripheral olfactory dysfunction which could contribute to the alterations in the olfactory cortex and the observed olfactory dependent behaviors.
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Details
- Title
- Olfactory dysfunction in a mouse model of fragile X syndrome
- Creators
- Danielle DeBartolo
- Contributors
- Michael R. Akins (Advisor)
- Awarding Institution
- Drexel University
- Degree Awarded
- Doctor of Philosophy (Ph.D.)
- Publisher
- Drexel University; Philadelphia, Pennsylvania
- Number of pages
- x, 106 pages
- Resource Type
- Dissertation
- Language
- English
- Academic Unit
- Biology; College of Arts and Sciences; Drexel University
- Other Identifier
- 991015588562604721