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Full-Text Articles in Diseases

Investigating The Role Of Neuronal Aging In Fragile X-Associated Tremor/Ataxia Syndrome, Katlin Marie Hencak Jan 2019

Investigating The Role Of Neuronal Aging In Fragile X-Associated Tremor/Ataxia Syndrome, Katlin Marie Hencak

Honors Undergraduate Theses

Fragile X-associated tremor/ataxia syndrome (FXTAS) is an X-linked late-onset neurodegenerative disorder caused by a noncoding trinucleotide repeat expansion in the FMR1 gene. This gene produces fragile x mental retardation protein (FMRP), an RNA binding protein whose targets are involved in brain development and synaptic plasticity. One of the proposed mechanisms of FXTAS pathogenesis is an RNA gain-of-function in which the repeat expansion causes toxic mRNA that sequesters important proteins in the cell, interfering with their functions. Another suggested method of pathogenesis is through a mutant protein called FMRpolyG. This protein results from repeat-associated non-AUG (RAN) translation, in which the expanded …


A Meta-Analysis Of Neuromyelitis Optica Epidemiology In Latin American Nations, Brittany M. Zengotita Jan 2019

A Meta-Analysis Of Neuromyelitis Optica Epidemiology In Latin American Nations, Brittany M. Zengotita

Honors Undergraduate Theses

Neuromyelitis Optica (NMO) is a rare, autoimmune, neurodegenerative disease selectively affecting the optic nerves and spinal cord. Relapsing NMO is nine times more prevalent in women than in men and approximately one-quarter of NMO patients have symptoms of another autoimmune disorder (National Institute of Health, 2019). NMO has not been linked to any genetic mutations and the cause of the disorder is unknown beyond the general understanding that the body produces anti-aquaporin-4 antibodies (AQP4) which mistakenly attack cells in the nervous system. NMO affects roughly one percent of that of Multiple Sclerosis (4000-8000 patients total) in the United States, but …


Reducing The Rate Of Misdiagnosis Of Postural Orthostatic Tachycardia Syndrome, Isabelle C. Gill Jan 2018

Reducing The Rate Of Misdiagnosis Of Postural Orthostatic Tachycardia Syndrome, Isabelle C. Gill

Honors Undergraduate Theses

Postural orthostatic tachycardia syndrome (POTS) is a common yet frequently misdiagnosed dysautonomia characterized by a significant increase in heart rate upon standing. POTS patients experience severe fatigue, dizziness, pre-syncope, and a diminished quality of life. The intent of this thesis is to investigate factors contributing to POTS misdiagnosis and develop a proposal for improving diagnostic procedures. The first part of this thesis presents an overview of other frequently misdiagnosed conditions, providing an understanding of the basis for the diagnostic problems in POTS and methods to combat such difficulties. The second part of this thesis details a meta-analysis performed on POTS …


Investigating The Role Of The Gut Microbiome In Huntington Disease, Casey G. Hart Jan 2018

Investigating The Role Of The Gut Microbiome In Huntington Disease, Casey G. Hart

Honors Undergraduate Theses

Huntington disease (HD) is an inherited neurodegenerative disease caused by a trinucleotide repeat expansion in the huntingtin (HTT) gene. Metabolic dysfunction is a feature of HD that is recapitulated in HD mouse models. Our lab has shown that circadian feeding rhythms are disrupted in humanized HD mice and restored by suppression of brain HTT. Furthermore, when circadian feeding rhythm is artificially restored, in addition to normalization of metabolic function, liver and striatal HTT is temporarily reduced, demonstrating that HTT is involved in gut-brain feedback. The gut microbiome, which can regulate gut-brain feedback, has been implicated in the pathogenesis …


Identification Of The Effects Of Diabetes Mellitus On The Brain, Tryphina A. Mikhail Jan 2016

Identification Of The Effects Of Diabetes Mellitus On The Brain, Tryphina A. Mikhail

Honors Undergraduate Theses

As more studies accumulate on the impact of diabetes mellitus on the central nervous system, they resound with the same conclusion - diabetes has a detrimental effect on cognition regardless of the presence of comorbidities. Less consistent however, are the specific mental processes wherein these declines are noticeable, and the structural changes that accompany these reductions in mental capacity. From global atrophy to changes in the volume of gray and white matter, to conflicting results regarding the effects of hypo- and hyperglycemic states on the development of the hippocampus, the studies display a variety of results. The goal of this …