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Early Life Stress And Endothelin Receptor Type A: Separate Roles In Mediating Colitis, Rachel Q. Muir Jan 2023

Early Life Stress And Endothelin Receptor Type A: Separate Roles In Mediating Colitis, Rachel Q. Muir

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Inflammatory bowel disease (IBD) results from the interplay of genetic susceptibility, environmental influences, the microbiota, and aberrant immune responses. Despite the fact that over 200 genetic susceptibility loci have been identified, the genetic contribution to disease onset is believed to be less than 50%. Environmental factors have arisen as key drivers of disease. Early life stress (ELS) is an understudied environmental trigger linked to IBD susceptibility. Utilizing 2 separate models of ELS, we show that ELS results in diminished colonic corticosterone and prolonged intestinal inflammation upon colitogenic insult. ELS-exposed animals consistently demonstrated high levels of colonic Tnf, concurrently with decreased …

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Investigating The Role Of A Novel Subpopulation Of Pd-L1+ Quiescent Melanocyte Stem Cells In Pigmentation, Joseph W. Palmer Jan 2023

Investigating The Role Of A Novel Subpopulation Of Pd-L1+ Quiescent Melanocyte Stem Cells In Pigmentation, Joseph W. Palmer

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Immune checkpoint inhibitors have drastically improved cancer treatments and increased the overall survival rate of many cancer patients. Currently, one of the most active areas of research involves inhibitors to the interaction of programmed death 1 (PD- 1) found on T cells and its ligand programmed death-ligand 1(PD-L1) found on tumor cells. However, PD-L1 expression is not limited to cancer cells and physiological expression of PD-L1 can be found in tissues throughout the body. One notable side-effect of anti-PD-1/PD-L1 therapies is the return of pigmentation to previously gray hairs suggesting that quiescent melanocyte stem cells (qMcSCs) are retained gray hairs …

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Improved Myocardial Infarct Repair Via Cardiac Tissue Engineering And Modified Rna, Lu Wang Jan 2023

Improved Myocardial Infarct Repair Via Cardiac Tissue Engineering And Modified Rna, Lu Wang

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Cardiovascular diseases remain the leading cause of death in the United States and the world. Myocardial infarction (MI) happens when there is an occlusion in the blood vessel. Cardiomyocytes (CM) die quickly after MI and are replaced by a fibrotic scar. Since adult mammalian cardiomyocytes have a limited capacity to regenerate, the damages induced by MI usually deteriorate into more severe symptoms such as heart failure. In order to achieve regeneration of the cardiomyocytes, numerous therapies have been proposed, including cellular therapy and CM cell cycle re-entry. During this dissertation study, we focused on improving myocardial infarct repair via cardiac …

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Aberrant Signal Transduction Of Neuronal Injury: Trauma And Toxicology, Alan Umfress Jan 2023

Aberrant Signal Transduction Of Neuronal Injury: Trauma And Toxicology, Alan Umfress

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Neurological injuries occur in epidemic proportions worldwide. Neuronal injuries are events resulting in damage to the central nervous system (CNS) that impair neurological function. Subsequent impairments in neuronal function can be rapid, existing immediately after injury, or progressive and chronic impairments that persist for the lifetime of the survivor. CNS injury constitutes a broad class of environmental and pathophysiological insults ranging from blunt-force trauma to the brain or spinal cord, to acute ischemic and hemorrhagic strokes, and insults resultant from neurotoxic agents. While divergent in initial cause, many of these insults share underlying pathophysiological outcomes including excitotoxic cell signaling, neuroinflammation, …

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Mechanisms Of Simulated-Spinal Manipulative Therapy In Animal Models Of Low Back Pain, Carla Rigo Lima Jan 2023

Mechanisms Of Simulated-Spinal Manipulative Therapy In Animal Models Of Low Back Pain, Carla Rigo Lima

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Low back pain (LBP), a condition characterized by pain experienced between the 12th rib margin and gluteal folds, is a prevalent health problem that affects an ever-increasing population worldwide. First-line treatment for LBP often involves non-pharmacological approaches, including spinal manipulative therapy (SMT), which has demonstrated mild-to-moderate clinical efficacy. However, despite its therapeutic benefits, the physiological mechanisms underlying the analgesic effects of SMT in LBP are still not well understood. Recent evidence suggests that sensitization of peripheral and central nervous system structures contribute to the progression and maintenance of LBP with inflammatory cytokines, reactive glial cells, and/or aberrant muscle spindle activity …

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Enhancing Plant Functional Annotation By Integrating Graph Convolutional Networks And Natural Language Processing, Nilesh Kumar Jan 2023

Enhancing Plant Functional Annotation By Integrating Graph Convolutional Networks And Natural Language Processing, Nilesh Kumar

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Studying plant gene function is essential for understanding the underlying mechanisms that govern plant growth, development, and environmental adaptation. This knowledge can improve crop yields and food security by developing plants resistant to diseases, pests, and environmental stress. Moreover, understanding plant gene function can also aid in environmental conservation efforts by providing insight into the mechanisms that plants use to adapt to changing environments and can help preserve endan-gered plant species. For several reasons, studying gene function in plants can be more challenging than in animals. Plant genomes are larger and more complex than animal genomes, making it harder to …

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Strategies For Her2 Targeted Pet Imaging, Maxwell Adams Ducharme Jan 2023

Strategies For Her2 Targeted Pet Imaging, Maxwell Adams Ducharme

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Breast cancer is one of the most common and deadly cancers diagnosed in women each year. The HER2-positive subtype of breast cancer is associated with poor prognosis and lower progression-free survival. Early identification of HER2 expression is extremely important for the effective treatment of the disease. Current methods to diagnose HER2-positive breast cancer involve invasive biopsies to semi-quantitatively determine the amount of HER2 expression. However, many lesions are often unavailable for biopsy due to their location and there may be variable HER2 expression between the primary tumor and metastasis. Positron emission tomography (PET) can give a full-body, non-invasive evaluation of …

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Induction Of Antibiotic Activity Against Methicillin-Resistant Staphylococcus Aureus In Small Molecules Through Zinc Activation, Rachel Michaela Andrews Jan 2023

Induction Of Antibiotic Activity Against Methicillin-Resistant Staphylococcus Aureus In Small Molecules Through Zinc Activation, Rachel Michaela Andrews

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Methicillin-resistant Staphylococcus aureus (MRSA) is a serious human pathogen with a staggering potential for multi-drug resistance. Because of this, the Centers for Disease Control and Prevention and the World Health Organization monitor the spread of MRSA and encourage antibiotic development efforts targeting this pathogen. Despite this, few antibiotics have been developed and brought to market in recent decades. To continue treating infections caused by this organism, we must identify novel antibiotic molecules with different mechanisms of action from known antibiotics. Bacterial copper-dependent inhibitors (CDIs), molecules that become antibacterial in the presence of copper (Cu), have been studied as a novel …

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Magic! Missed Or Miracle?, Curt C. Anderson Jan 2023

Magic! Missed Or Miracle?, Curt C. Anderson

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Truth default theory holds that people do not expect or notice deception unless they are triggered to think outside their natural tendency to believe others (Levine, 2020). It follows that people may not notice something deceptive or seemingly impossible if they are not first primed to raise suspicion. This study tests truth-default theory and triggering in the context of magic tricks. It hypothesized that people could watch two magic tricks performed without realizing they just witnessed something impossible because they were not primed to be aware of the presence of the possibility of deception. The research design is a three-group …

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"Generous And Self-Devoted Being": Grief Psychology And Mary Shelley's Frankenstein, Madison Hogg Jan 2023

"Generous And Self-Devoted Being": Grief Psychology And Mary Shelley's Frankenstein, Madison Hogg

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Scholarly discussion of the character Victor Frankenstein in Mary Shelley's Frankenstein generally determines his fatal flaw to be an overly ambitious nature, deter-mining a denouncement of ambition as the novel's core moral aim. However, Franken-stein's experience of and avoidance of grief shapes his actions. Exploring how modern understandings from the field of grief psychology reflect Shelley's description of Frankenstein's inner life and experiences, the novel can be treated as a metaphor for grief and grieving. A grief-informed reading of the novel brings many of the novel's main themes—connection versus isolation, belonging, and empathy—into sharper relief than ambition-focused readings, casting more …

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Use Of Atr-Ftir Spectroscopy For Estimating Postmortem Interval, Age Of Bloodstains, Sex Og Blood Donor, And Species Differentiation, Olivia Glaze Jan 2023

Use Of Atr-Ftir Spectroscopy For Estimating Postmortem Interval, Age Of Bloodstains, Sex Og Blood Donor, And Species Differentiation, Olivia Glaze

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Blood is a powerful form of evidence that can provide valuable information about a crime. Most commonly blood is a source of DNA, however, generating a DNA profile can be costly, time consuming, and sometimes is not possible. Consequently, it is important to have methods for gathering additional information from blood evidence. Attenuated total reflectance Fourier transform infrared (ATR-FTIR) spectroscopy is a method commonly used in confirmatory testing of drugs, fibers, paints, and other substances of forensic interest. This method only requires a small amount of sample, is non-destructive, sample preparation is minimal, and analysis is relatively fast. Recent research …

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A Colorblind Approach To Silencing African American Voices Through The Banning Of Critical Race Theory, Mia J. Freeman Jan 2023

A Colorblind Approach To Silencing African American Voices Through The Banning Of Critical Race Theory, Mia J. Freeman

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This thesis focused on addressing the framing of criticisms of Toni Morrison's Beloved in the state of Virginia through the context of African American Criticism and Critical Race Theory. The methodology undertaken addresses the central research question, How might African American Criticism and Critical Race Theory provide a theoretical framework for responding to recent criticisms about Beloved? The researcher approached Beloved by historicizing select passages from the novel and situating those passages and the realities they reflect in the context of criticisms waged by parents and politicians. The thesis also explained how tenets of African American Criticism and Critical Race …

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Us Tv News' Portrayal Of The Types Of Bystander Intervention In Public Scenes Of Conflict And/Or Duress, Audrey Shreiner Jan 2023

Us Tv News' Portrayal Of The Types Of Bystander Intervention In Public Scenes Of Conflict And/Or Duress, Audrey Shreiner

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This research aims to analyze the types of bystander intervention in public scenes of conflict and/ or duress as presented by United States (U.S.) broadcast media news sources, specifically television (TV). Stories of bystander intervention are regularly featured in news coverage of mass media. As a source of information and entertainment, media is a space of cultural (re)formation. Video analysis of real-life behavior, rather than lab constructs, expands the possibility of what can be observed of human behavior. This is what has expanded the understanding of the behavior of bystander intervention and has challenged the theory of the bystander effect. …

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Investigating The Reproductive Biology Of The Kemp's Ridley Sea Turtle And The Diamondback Terrapin: Implications For Conservation, Robby Joseph Brannum Jan 2023

Investigating The Reproductive Biology Of The Kemp's Ridley Sea Turtle And The Diamondback Terrapin: Implications For Conservation, Robby Joseph Brannum

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The studies conducted within this thesis used physiological-based methodologies to assess the reproductive and developmental biology of two threatened turtle species. Chapter one investigates the decreased clutch frequency hypothesis as a potential cause for the recent loss in the 19% annual recovery rate in the Kemp’s ridley, Lepidochelys kempii. This study combined ultrasonography, testosterone analysis, and PIT tag assessment methods to re-evaluate the clutch frequency of Kemp’s ridleys nesting at the primary nesting beach of Rancho Nuevo. Results estimated a clutch frequency of 2.6 nests per female per season, suggesting that decreases in clutch frequency are not a potential factor …

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Characterizing A Unique Oprm1 Expressing Neuronal Population In The Rat Nucleus Accumbens, Emma Andraka Jan 2023

Characterizing A Unique Oprm1 Expressing Neuronal Population In The Rat Nucleus Accumbens, Emma Andraka

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Opioid-related overdose deaths have increased drastically in the past three decades, and especially since the beginning of the COVID-19 pandemic, due to the addictive, analgesic, and euphoric properties of the drugs. To produce these effects, opioids bind to the mu opioid receptor (MOR) in GABAergic neurons. The MOR is encoded by the Oprm1 gene and is expressed in multiple brain regions that regulate reward and motivation, such as the nucleus accumbens (NAc). Previous studies of Oprm1 knockdown in medium spiny neurons (MSNs) of the mouse NAc have shown that these neuronal populations are involved in reinforcing reward-context pairing as well …

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Crucial Role Of T Follicular Helper Cell-Derived Ifn-Γ In Lung Resident Memory B Cell Responses, Nicole Michelle Arroyo-Diaz Jan 2023

Crucial Role Of T Follicular Helper Cell-Derived Ifn-Γ In Lung Resident Memory B Cell Responses, Nicole Michelle Arroyo-Diaz

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T follicular helper (Tfh) cells constitute a distinct subset of CD4 T cells that reside within B cell follicles, playing an indispensable role in orchestrating the Germinal Center (GC) response. In response to polarizing environments, such as Influenza A virus infection (IAV), Tfh cells secrete effector cytokines, including IFN-γ and IL-4. Nevertheless, the specific functions of cytokine-producing Tfh cell subsets, beyond their involvement in driving class switch recombination (CSR), remain largely unexplored. Here, we demonstrate that, following IAV infection, Tfh cell cytokine production undergoes a dynamic shift, transitioning from early IFN-γ dominance to later predominance of IL-4. The initial IFN-γ …

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Chronic Circadian Disruption Increases Risk For Cardiovascular Disease, Jazmine Benjamin Jan 2023

Chronic Circadian Disruption Increases Risk For Cardiovascular Disease, Jazmine Benjamin

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Circadian disruption is a disturbance in biological timing which can occur within or between different organizational levels, ranging from molecular rhythms within specific cells to misalignment of behavioral and environmental cycles. Previous work has shown that changing the timing of food availability is sufficient to lower blood pressure and improve insulin sensitivity in prediabetic males, demonstrating the importance of timing of food intake for cardiovascular health. Findings from our group demonstrated that less than one week of mistimed feeding is sufficient to invert diurnal blood pressure rhythms, although kidney excretory rhythms and kidney function remained aligned with the light-dark cycle. …

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Novel Role For St6gal1 Sialyltransferase As A Tumor Driver In Pancreatic Ductal Adenocarcinoma, Nikita Umakant Bhalerao Jan 2023

Novel Role For St6gal1 Sialyltransferase As A Tumor Driver In Pancreatic Ductal Adenocarcinoma, Nikita Umakant Bhalerao

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ST6Gal1 sialyltransferase adds negatively charged sialic acid in an α2,6 linkage to N-glycans on glycoproteins bound for the cell surface/secretion thus altering receptor structure, function and downstream signaling pathways. ST6Gal1 is upregulated in multiple cancers, including pancreatic, and imparts cancer stem cell-like phenotype. Pancreatic ductal adenocarcinoma (PDAC) is a lethal malignancy with a survival rate of ~10%. Acinar to ductal metaplasia (ADM), the tumor initiation stage of PDAC, occurs in response to insults like pancreatitis, when acinar cells dedifferentiate and form ductal-like cells with stem and ductal gene upregulation. These cells, on acquiring mutations such as in KRAS gene, can …

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Temporal Trends In Tularemia Incidence In The United States From 2010 To 2020. Are Age And Sex Associated With These Changing Trends?, Carla V. Brooks Jan 2023

Temporal Trends In Tularemia Incidence In The United States From 2010 To 2020. Are Age And Sex Associated With These Changing Trends?, Carla V. Brooks

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Background: Tularemia or Rabbit Fever was discovered in 1911 in a plague-like outbreak among rodents in Tulare County, California. Tularemia in the US has expanded from rural to more metropolitan areas, which may be potentially correlated with the escalating exposure of humans to animal vectors. There has not been a recent study evaluating trends in Tularemia, especially one that has evaluated if the trends in Tularemia over time differ by demographic characteristics. Methods: This is an ecological study to evaluate the temporal trends and if trends Tularemia incidence over time differs by age and sex in the United States from …

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Towards Minimally Invasive Genetically Targeted Control Of Neural Activity Using X-Rays, Kelli Cannon Jan 2023

Towards Minimally Invasive Genetically Targeted Control Of Neural Activity Using X-Rays, Kelli Cannon

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X-genetics aims to replace visible light stimulation in optogenetics with X-radiation, offering improved bone penetration, minimal scattering, and enhanced targeting capabilities. This eliminates the need for surgical optic fiber implantation, reducing invasiveness and minimizing off-target effects. Discovering a receptor protein sensitive to X-rays or their byproducts is pivotal for advancing X-genetics.Two genetically encoded X-ray receptors (GEXRs) were investigated for X-genetics application: rhodopsin, historically associated with X-ray responses, and LITE-1, an unexpected candidate. Rhodopsin, when expressed in human embryonic kidney (HEK293) cells, demonstrated robust cAMP decreases upon visible light stimulation but remained unresponsive to moderate and high-dose X-rays, suggesting it may …

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Investigating The Epigenetic Mechanisms Regulating Gene Expression And Dna Methylation In Rainbow Trout And Zebrafish, Khalid Walid Freij Jan 2023

Investigating The Epigenetic Mechanisms Regulating Gene Expression And Dna Methylation In Rainbow Trout And Zebrafish, Khalid Walid Freij

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With the expansion of the aquaculture industry, sustainable shifts in aquaculture must be made to access nutrients essential to human health in response to a decline in marine resources for aquafeeds. Along with shifts in aquafeed composition, selective breeding programs aid in enhancing production-related traits, like growth and feed efficiency, and disease resistance to improve overall profits. Dietary components are important in relation to the growth and metabolism of fishes. Recent research has focused on the benefits of micronutrient supplementation (e.g., choline, methionine, selenium, etc.) on growth performance in fishes. Rainbow trout are a commercially important aquaculture species in the …

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Variation In The Gut Microbiome In Response To Nutrition In Danio Rerio, George Brian Hadley Green Jan 2023

Variation In The Gut Microbiome In Response To Nutrition In Danio Rerio, George Brian Hadley Green

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Like humans, Danio rerio, commonly known as the zebrafish, generally harbor millions of gut microbes, whose commensal microbial organisms aid in digestive physiology, nutrition, and host health. The emergence of high throughput sequencing technology (HTS) enables researchers to sequence collective microbial genomes, providing information on the composition of entire microbial communities, as well as the dynamics across taxa encompassing the overall community. Thus, the advancement of genome sequencing and metagenomic analysis have provided a broader understanding of resident and exogenous microbes across biological model organisms. These technologies have enabled researchers to review a spectrum of endogenous and exogenous factors influencing …

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Time-Restricted Feeding Modulates Dgat2 Expression In Cardiac And Skeletal Muscle, Yiming Guo Livelo Jan 2023

Time-Restricted Feeding Modulates Dgat2 Expression In Cardiac And Skeletal Muscle, Yiming Guo Livelo

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Circadian disruption caused by aging, genetic, environmental, and lifestyle factors can lead to compromised cardiac and skeletal muscle function and potentially accelerate the progression of metabolic diseases. Time-restricted feeding/eating (TRF/TRE, referred to as TRF hereafter), a dietary intervention that confines food intake within a consistent window of the day, has pleiotropic benefits from flies and mice to humans. However, the effectiveness of TRF on heart and muscle in the context of various metabolic challenges such as circadian disruption and obesity is largely unknown. Current insights into the mechanisms of TRF are primarily based on multi-omics approaches, particularly transcriptomes; however, limited …

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Molecular Imaging To Evaluate Tumor Heterogeneity And Guide Treatment Of Breast Cancer, Yun Lu Jan 2023

Molecular Imaging To Evaluate Tumor Heterogeneity And Guide Treatment Of Breast Cancer, Yun Lu

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Molecular imaging plays an important role in predicting and evaluating treatment response and revealing the underlying biological mechanisms in the cancer field. Especially, PET imaging serves as a valuable tool for comprehending the tumor microenvironment (TME), allowing us to track tumor metabolism, proliferation, receptor expression, and immune infiltration. In this comprehensive study, three distinct aspects of cancer research were explored using molecular imaging techniques.The first study aimed to evaluate the accuracy of the fluorescence ubiquitination cell cycle indicator (FUCCI) system with fluorescence in vivo imaging compared to 3'-Deoxy-3'-[18F]fluorothymidine ([18F]-FLT) positron emission tomography (PET)/computed tomography (CT) in assessing cancer cell proliferation. …

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Exercise-Driven Epigenetic And Transcriptomic Changes In An Experimental Model Of Temporal Lobe Epilepsy, Silvienne C. Sint Jago Jan 2023

Exercise-Driven Epigenetic And Transcriptomic Changes In An Experimental Model Of Temporal Lobe Epilepsy, Silvienne C. Sint Jago

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Temporal lobe epilepsy (TLE) is a neurological disease marked by recurring unprovoked seizures originating from temporal lobe structures and is frequently associated with cognitive deficits. Exercise holds promise as a therapeutic approach to alleviate seizures and cognitive impairments in TLE. However, the exact cellular and molecular mechanisms by which exercise influences pathways related to seizure activity and cognition in the context of TLE still need to be understood. Neuronal network formation relies on the regulation of gene expression, which can lead to either an increase or a decrease in the production of essential proteins involved in neuronal signaling. Genes are …

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Neuropeptide Y Overexpression In The Presence Of P23h Rhodopsin Mutation, Jean Sun Jan 2023

Neuropeptide Y Overexpression In The Presence Of P23h Rhodopsin Mutation, Jean Sun

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Neuropeptide Y (NPY), a 36-amino acid peptide, has been found to be the most abundant neuropeptide in the central nervous system, and it is widespread across mammalian species. NPY plays a dual role as a neurotransmitter and neuromodulator in the nervous system. NPY functions as a multifaceted neuromodulator through binding NPY receptors (NPYRs). NYP interacts with NPYRs and regulates various activities, such as cell growth, neurogenesis, neuroprotection, mitochondrial behaviors, food intake, anxiety, and addiction formation. In terms of NPY’s neuroprotective potential, NPY inhibits neuronal death signaling, thus preventing apoptosis, and displays anti-inflammatory and anti-oxidative effects. Additionally, it influences metabolism by …

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Select Lipid Signaling. Derived From T-Cells Is An Important Contributor To Type 1 Diabetes Development, Tayleur White Jan 2023

Select Lipid Signaling. Derived From T-Cells Is An Important Contributor To Type 1 Diabetes Development, Tayleur White

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We reported that Ca2+-independent phospholipase A2β (iPLA2) contributes to type 1 diabetes (T1D) development; however, the impact of lipid signaling from T-cells is unknown. To address this, we first administered splenocytes from NOD, NOD.iPLA2+/- (NOD.HET), or NOD.iPLA2-/- (NOD.KO) mice to 4-week-old NOD.scid recipients. As expected, T1D onset was rapid in NOD cell recipients and 100% by 12 weeks. However, onset was delayed by 1-3 weeks in NOD.HET or NOD.KO cell recipients and only 60% became diabetic, suggesting a role for T-cell iPLA2. Next, to establish importance of iPLA2 in CD4 or CD8 cells, purified cells were administered to NOD.scid mice. …

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Roles Of Dietary Bioactive Compounds In Gut Microbiota Modulation And Epigenetic Regulation In The Prevention Of Breast Cancer, Huixin Wu Jan 2023

Roles Of Dietary Bioactive Compounds In Gut Microbiota Modulation And Epigenetic Regulation In The Prevention Of Breast Cancer, Huixin Wu

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Breast cancer (BC) is the second most common cancer and the second leading cause of cancer death among women in the United States. The average risk of a woman developing BC is about 13% according to American Cancer Society. Various genetic-related risk factors including inherited mutations of genes, and lifestyle-related risk factors such as physical inactivity, obesity, aging, smoking, and air pollution have been studied for cancer prevention and treatment. The currently existing treatment methods such as chemotherapy and neoadjuvant systemic therapy can induce adverse effects on patients. Therefore, cancer prevention has been of great interest to the society. Numerous …

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Access To The Kidney Transplant Waitlist For People Living With Hiv, Brittany A. Shelton Jan 2022

Access To The Kidney Transplant Waitlist For People Living With Hiv, Brittany A. Shelton

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People living with HIV (PLWH) have experienced substantial increases in life expectancy, largely attributable to improvements in care such as antiretroviral therapy. As a result, there has been a concurrent increase in the development of aging-related comorbidities such as end-stage organ disease. One such comorbidity is kidney disease. Concerningly, PLWH are at disproportionately higher risk of chronic kidney disease and end-stage kidney disease (ESKD) as compared to HIV-negative counterparts. Kidney transplantation is the ideal therapy for ESKD as it is both cost-effective and provides a significant survival benefit and yet, despite excellent transplant outcomes among PLWH, access to transplantation among …

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Targeting The Frataxin Transcriptional Defect As A Therapeutic Approach For Friedreich's Ataxia, Anna Maria Schreiber Jan 2022

Targeting The Frataxin Transcriptional Defect As A Therapeutic Approach For Friedreich's Ataxia, Anna Maria Schreiber

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Friedreich’s ataxia (FRDA) is the most common inherited ataxia worldwide. This autosomal recessive neurodegenerative disorder manifests in the central and peripheral nervous system but also affects the cardiovascular and endocrine systems. No effective treatment is available. FRDA is caused by expansion of GAA repeat tracts in intron 1 of the frataxin (FXN) gene on both alleles. An inverse correlation between FXN levels and GAA repeat length exists. Frataxin is a mitochondrial protein participating in iron-sulfur (Fe-S) cluster formation. Frataxin deficiency results in reduced activity of Fe-S-containing enzymes involved in critical biological processes, such as cellular respiration and DNA repair. Expansion …

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