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Analyzing the Inhibition Of Chemical Compounds On Protease in P. aeruginosa
Elaine Vanterpool
Pseudomonas aeruginosa is a gram-negative, bacillus-shaped opportunistic pathogen, notorious for invading immunocompromised individual leading to secondary infections. These opportunistic microbes typically are implicated mild to more severe infections including burn or wound infections to more serious systemic infections. The bacterium Ps. aeruginosa utilizes a variety of virulence factors to enhance the pathogenicity of the organism. Virulence factors secreted by Ps. aeruginosa include its pili, adhesins, capsule, exotoxin A, and lipopolysaccharide (LPS). The proteases produced by Ps. aeruginosa are powerful virulence factors that can lead to tissue destruction and immune invasion. It is imperative that we find ways of regulating the proteases of this organism.
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Improving Biocompatibility and Structural Integrity of Decellularized Biomaterials
Elaine Vanterpool
Tissue engineering is a revolutionary approach to regenerative medicine. Within the field of tissue engineering, biomaterials such as the great saphenous vein or synthetic materials such as PET, are used in tissue generation for grafts and wound healing in many other uses. This is promising and has the potential to save many lives, but many glaring issues prevent the use of these scaffolds in a clinical setting. Some of these include body rejection, lack of hemocompatibility, and weak structural integrity.
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Silver Nanoparticles and Natural Compounds can Modulate Proteolytic Activities of Escherichia coli
Elaine Vanterpool
Escherichia coli (E. coli) is a gram-negative, facultative anaerobic bacterium that naturally resides in the human gastrointestinal tract as a commensal microorganism. While non-pathogenic strains contribute to digestion and vitamin production, certain pathogenic strains can cause a wide range of diseases, from mild gastrointestinal discomfort to severe illness. A key factor in its pathogenicity is the production of protease enzymes that break down proteins which play a crucial role in bacterial survival and virulence. This study aimed to investigate the effectiveness of different antibacterial compounds in inhibiting the function of both secreted and cell-associated E. coli protease activity.
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Silver Nanoparticles and Vanillin Can Inhibit Collagenase Activities of Serratia marcescens
Elaine Vanterpool
Serratia marcescens is a gram-negative, disease-causing agent that belongs to the Enterobacteriaceae family. This rod-shaped microbe causes many infectious diseases such as urinary and respiratory infections, wound infections, and peritonitis, which can result in fatal bacteremia. Protease is a virulence factor of S. marcescens that enhances its pathogenicity by breaking down proteins via cleavage of peptide bonds. The purpose of this research is to identify testing agents that reduce the protease mediated pathogenicity of S. marcescens
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Using Secreted Biomarkers in the Development of the Detection of Advanced Cancer Screening System
Elaine Vanterpool
An estimated 20 million people globally develop cancer every year. Furthermore, over 9.7 million people die from cancer. The best prognosis of cancer occurs when detected early. Cancer, in its early stages, usually does not display clinical symptoms and is usually not detectable by symptoms and is diagnosed later. The goal of the D.A.C.S. is to provide a screen that can detect cancer. It is hypothesized that developing a cancer detection system/technology, named D.A.C.S. (Detection of Advanced Cancer Screening) system, can help with early cancer detection, while still being affordable for the general public.
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The Duality of the BARD1 Gene
Elaine Vanterpool and Khadra Burden
Breast cancer is the 2nd most diagnosed cancer in women in the United States (Mayo Clinic). Cancer is the overproduction of cells. In other words, cancer-infected cells continue to grow and may cause large growths called tumors. Although there have been innumerable strides in breast cancer research, the exact cause for breast cancer is not yet known (Mayo Clinic). It is believed that factors such as family history of the disease, early menstruation age, and obesity can increase an individual’s chances of having breast cancer. One of the well-known genes associated with breast cancer is BRCA1. A much less researched gene associated with breast cancer is BARD1 (BRCA1 associated ring domain 1). ClinVar identified the BARD1 gene to be connected to breast cancer, and over 1000 missense variants. Most of the variants had uncertain/conflicting clinical significance. ClinVar also identified the single nucleotide variants Pro7Ser and Cys71Tyr as missense mutations linked to BARD1. Pro7Ser had an uncertain/conflicting clinical significance and Cys71Tyr was classified as pathogenic. SIFT and PolyPhen2, bioinformatics software, determined that the Cys71Tyr mutation is probably damaging, and the Pro7Ser mutation is benign. The BARD1 gene’s FASTA sequence was placed into the SWISS-Model software to create a 3D protein model. These findings further support previous studies on the correlation between familial breast cancer and the BARD1 gene.
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HBB Gene and Sickle Cell Disease
Elaine Vanterpool and Adia Burley
Sickle cell disease affects the shape of the red blood cells in our body, which can affect the oxygen carried to the rest of the body. The red blood cells become sickle-shaped, making it harder to pass through the body. Sickle cell disease affects around 100,000 people in the United States (CDC). More than 90% are African American or non-Hispanic black, and 3%-9% are Hispanic or Latino (CDC). Some mutations have been reported that are related to sickle cell disease, with HBB mutations highly correlated with sickle cell. This study aims to evaluate the specific missense mutations associated with HBB.
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Bioinformatics Analysis of the MBL2 Missense Variants Associated with Cystic fibrosis
Elaine Vanterpool and Kiar-Ra Cameron
Cystic fibrosis (CF) is an autosomal recessive disease commonly recognized by thick mucus and loud coughs. The manifestation of these symptoms is due to the inability of chloride ions to diffuse out of the cell. Thus, preventing osmosis resulting in a thick mucus on the lung’s surface. Those who suffer from this disease have difficulty breathing and require a modulator with a vest to increase gas exchange in the lungs. Moreover, the disease can result in much pain due to coughs, which destroys ciliated epithelial cells. Patients who have cystic fibrosis can suffer from pneumonia and other bronchial infections. They also experience difficulties with secretions out of exocrine glands. The low-frequency gene, Mannose Binding Lectin-2 (MBL2) associated with cystic fibrosis was analyzed for this study. This gene encodes for a protein that plays an integral role in the innate immune system. It binds to the mannose and N-acetylglucosamine found on the surface of pathogens. It then removes the pathogen by signaling the lectin complement system and phagocytic cells. The purpose of this study was to observe the missense mutations within this gene. Computational tools were used to view the mutated variants, the 3-D modelling, and conserved domains. The simple ClinVar database identified variants within this gene. Polyhen2 was used to analyze the pathogenicity of Gly54Asp and Pro101Leu. The computational tool predicted Gly54Asp as "probably damaging” with a 1.00 sensitivity score. The Pro101Leu swap was deemed to be “benign” with a sensitivity score of 0.043. Upon further analysis, the SIFT tool predicted the substitution to affect the protein. The second variant, Pro101Leu was predicted to be "tolerated". The SWISS modelling further identified the physical changes in the protein structure. Analysis of mutations within this gene can prevent other infections; ultimately, preventing the exhibition of cystic fibrosis.
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An Analysis of CAPN-10 Variants Associated with Polycystic Ovarian Syndrome
Elaine Vanterpool and Azaria Carey
Polycystic Ovarian Syndrome (PCOS) is a common endocrinopathy in 6-13% of females. Small fluid filled sacs develop along the outer edge of the ovarian lining, later turning into cysts. These contain immature eggs, called follicles, which regularly fail to release. The exact cause of PCOS is unknown. Although, along with early diagnosis, treatment, and weight loss, these routine factors may lower the risk of long-term complications such as type-2-diabetes and cardiovascular diseases (Mayo Clinic). This study’s purpose is to identify and access the pathogenicity of CAPN-10 variants associated with PCOS.
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An Analysis of ABCA3 variants Associated With Hypertension
Elaine Vanterpool and Lisa-Faith Dieujuste
Hypertension is a condition that affects the arteries of a person. It occurs when the blood pressure in the body is too high. A medical condition that is well known to be one of the major causes of premature deaths worldwide. Affecting an estimation of 1.28 billion adults (World Health Organization). This study’s purpose is to identify and assess the pathogenicity of ABC3 variants associated with Hypertension.
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An Analysis of DAGLA Variants Associated with ADHD
Elaine Vanterpool and Zahra Dulan
Attention Deficit Hyperactivity Disorder (ADHD) is a neurodevelopmental disorder characterized by impulsivity, difficulty focusing and staying on task, hyperactivity, including restlessness and excessive talking, and deficits in working memory. Individuals with ADHD may also struggle to maintain relationships, regulate emotions, and stay organized. The DAGLA gene has been associated with the ADHD phenotype and is primarily located in brain tissues. It is responsible for encoding diacylglycerol lipase alpha, an enzyme involved in the biosynthesis of key endocannabinoid 2-arachidonoyl glycerol (2-AG). This protein has been shown to play a major role in central nervous system development and synaptic elasticity. This study serves to identify variants of the DAGLA gene associated with ADHD and determine their pathogenicity.
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CTSC gene Correlation with Dental Disease Periodontitis
Elaine Vanterpool and Misiel Garcia
Periodontitis is a dental disease that affects the tissue surrounding the tooth structure, originates from the gum tissue or oral cavity that is left untreated resulting in the penetration of bacteria causing gum bleeding and swelling, also alters the bone homeostasis causing tooth loss, and affects the overall health of the patient. There are not many genetic analysis studies associated with periodontitis. To evaluate potential variants associated with periodontitis, simple ClinVar identified CTSC as a gene associated with periodontitis. It is located on locus 11q14.2. Its variants were also identified. The pathogenicity of the missense variants was further analyzed. SIFT computational tool predicts the mutation Q286R impact protein function and PolyPhen2 analysis predicts the mutation to be damaging to the protein. Previous studies have demonstrated the role of cathepsin C in the pathogenesis of periodontitis, with mutations in the gene associated with rare syndromes that affect the tissues. Further studies are needed to understand the exact mechanism of how these mutations contribute to pathogenesis. This study contributes to the genetic research of periodontitis, specifically by identifying and analyzing CTSC gene variants and their potential impact on protein function.
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Mutations in the PMS1 Gene Associating with Ovarian Cancer
Elaine Vanterpool and Erin Hough
The female reproductive system contains two ovaries on each side of the uterus, producing eggs and hormones such as estrogen and progesterone. Ovarian cancer occurs when abnormal cells in the ovaries grow and divide uncontrollably, destroying healthy body tissue. Common symptoms of ovarian cancer include weight loss, fatigue, discomfort in the pelvic area, or changes in bowel habits. The goal of this research is to understand and identify the pathogenicity of the PMS1 gene in ovarian cancer and factors associated specifically with the mutation.
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Implications of PIK3CA on Breast and Ovarian Cancer
Elaine Vanterpool and Kaylani Krigger
Breast and ovarian cancer are two of the most prevalent diseases affecting women. Ovarian cancer is a disease defined by the presence of tumors in the ovaries. Breast cancer is the uncontrollable cell growth of breast tissue leading to tumor formation. BRCA 1/2, PALB2, TP53, and PTEN are common gene mutations found present in breast and ovarian cancer. The PIK3CA gene mutation is less frequent, however, its mutations are almost exclusively tied to breast and ovarian cancer. Forty percent (40%) of breast cancers and thirty percent (30%) of ovarian cancers have a mutation in the PIK3CA/AKT signaling pathway (Chen et al.). PIK3CA is found on chromosome 3q26.3 in eukaryotic cells. This gene is essential in propagating pathways within the cell membrane. This study aims to reveal the correlation between missense mutations in the PIK3CA gene and protein function. Simple Clinvar analysis was used to identify how mutations to PIK3CA contribute to breast and ovarian cancer. Bioinformatics tool Poly-Phen-2 highlighted the Glu545Ala and Glu135Lys amino acid shifts’ likely damaging effect to the protein. However, in the SIFT analysis only the Glu135Lys would affect the protein function. The data suggests a relationship between a single nucleotide polymorphism that causes an amino acid change, known as a missense mutation. Mistakes found in the protein sequence can lead to misfolding and pathogenicity of cancer cells. Medical intervention for tumors caused by PIK3CA and its variant mutations include surgical excision and chemotherapy. Still, genetic research is significant to advancing personalized medicine treatment for diseases caused by mutations in breast and ovarian cancer. Understanding the role of the PIK3CA gene can enhance clinical approaches in treating breast and ovarian cancer.
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Analysis of Alzheimer's Associated ADAM10 Mutations
Elaine Vanterpool and Addie McIver
Alzheimer’s Disease (AD) is the most common form of Dementia, affecting 10% of people over age 65 as the fifth-leading cause of death. In AD, protein buildup causes amyloid plaques and neurofibrillary tangles in the brain. These tangles can lead to a loss of neuron connection and damage, initially occurring in the hippocampus and entorhinal cortex, which are essential in memory formation. Certain gene mutations associated with an increased risk of AD affect the breakdown and function of proteins that influence processing and cell-signaling. The purpose of this study is to investigate the pathogenicity of AD associated genetic variants of ADAM10.
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Analysis of the CAPN10 Gene In Women With Polycystic Ovary Syndrome
Elaine Vanterpool and Gabrielle Murray
Polycystic Ovary Syndrome (PCOS) is a heterogeneous condition where a female has hormonal imbalances. A woman with PCOS ovaries produces abnormal high levels of androgens. Usually affected females have irregular menstrual cycles and further health issues which include diabetes type 2, ovarian cysts, and infertility. This study aims to investigate the association between mutations in the calpain10 gene and PCOS.
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The Influence of MEF2C Variants on Autism Development
Elaine Vanterpool and Maya O’Reilly
Autism Spectrum Disorder (ASD) is a condition that affects how people communicate, interact, and behave, with about 1 in 54 children in the U.S. being diagnosed. This study looks at the MEF2C gene and its possible link to ASD. MEF2C affects brain development and neuronal connections, playing a key role in how brain cells communicate and function. Changes in this gene have been connected to issues with speech, movement, and behavior in people with ASD, but the exact connection is still unclear.
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Analysis of TERT Gene associated with Melanoma
Elaine Vanterpool and Laila Prentice
Melanoma is a skin cancer that occurs when melanocytes, pigment producing cells in the skin, reproduce uncontrollably. It is a severe form of skin cancer that is characterized by its aggressive proliferation and resistance to treatment. It poses a significant health risk to the elderly, who may be more susceptible due to cumulative sun exposure and immune system decline. The gene targeted in research is TERT. Telomerase reverse transcriptase (TERT), is a ribonucleoprotein (RNP) that synthesizes telomeric DNA. The purpose of this study was to identify and assess the pathogenicity of TERT variants associated with melanoma. Materials such as Simple ClinVar, PolyPhen-2, and SIFT were used to observe any changes that this gene made in the overall protein structure and function. Three amino acid position switches were under analysis- position 412 from Histidine to Tyrosine, 694 from Valine to Methionine, and 772 from Tyrosine to Cytosine. PolyPhen-2 predicted that mutations in Tyrosine to Cytosine at position 412 and Valine to Methionine at position 694 would be damaging to the protein function, having a score of 1.000 and 0.999 respectively. In comparison, the mutation in Histidine to Tyrosine 412 was predicted to be benign, having a score of 0.184. SIFT further confirmed that these mutations would impact protein function. Swiss models showed slight but significant changes in the 3D structure of the protein due to the mutations. This study contributes to the existing research regarding the implications of the TERT gene associated with melanoma.
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An Analysis of Diabetes Associated with APPL1 Variants D94N and R46W
Elaine Vanterpool and Gaielle Price
Diabetes is a long-term metabolic illness with high blood glucose (blood sugar) levels. Over time, this condition can cause major harm to the heart, blood vessels, eyes, kidneys, and nerves. Around 830 million people in the world with diabetes reside in low- and middle-income environments (World Health Organization). This study aims to identify and assess the pathogenicity of APPL1 variants associated with diabetes.
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Analysis of Mutations of HYDIN Gene Associated with Hypertension
Elaine Vanterpool and Savania Simms
Hypertension is when the pressure in blood vessels elevates to high numbers. It is a common occurrence, but if not treated can become serious. Hypertension is a complex trait influenced by genetic variants affecting blood pressure regulation, involved in ciliary function and cellular signaling, and has been implicated in hypertension susceptibility. This study aimed to investigate the functional impact of HYDIN gene mutations on hypertension risk. To predict functional consequences, bioinformatic tools were used: PolyPhen-2 (predicting variants as damaging) and SIFT (predicting variants as deleterious). Simple ClinVar database analysis revealed variants as pathogenic/likely pathogenic for hypertension-related traits. Variant classification and functional prediction correlated with increased blood pressure and target organ damage in hypertensive patients carrying predicted damaging variants. For the 3 mutations that were evaluated, SIFT analysis showed that variant V1238L was predicted most likely to affect protein function. This study demonstrates the utility of combining bioinformatic predictions with clinical associations to characterize functional HYDIN gene mutations in hypertension.
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An Analysis of Androgen Receptor (AR) Variants in Breast Cancer
Elaine Vanterpool and Jordae Smith
The androgen receptor (AR) is a steroid-hormone activated transcription factor that regulates gene expression in response to testosterone and dihydrotestosterone (DHT). While AR has been extensively studied in prostate cancer, emerging research suggests its role in breast cancer, particularly in estrogen receptor-positive (ER-positive) and triple-negative breast cancer (TNBC). This study investigates AR variants associated with breast cancer, assessing their pathogenicity and potential impact on prognosis and treatment.
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Study of MYL3 Mutation Variants and Their Association with Cardiac Amyloidosis
Elaine Vanterpool and Kyla Tucker
Cardiac Amyloidosis is a rare serious, pathological, clinical progressive disease that is caused by the buildup of amyloid fibrils deposited at the cardiac level. The excess amyloid fibrils deposited in the myocardium leads to this critical condition. Cardiac amyloidosis is best treated when diagnosed in its initial stages. The purpose of this study was to identify and assess the clinical significance and pathogenicity of the Myosin light chain 3 (MYL3) its variants, and the potential link to cardiac amyloidosis. For this study, Simple ClinVar was utilized to identify MYL3 as one of the genes correlated with Cardiac Amyloidosis and variants. The three MYL3 missense variants identified were the Met149Val, which is suggested potentially pathogenic variant, the Arg94His, which is a suggested possibly pathogenic/likely pathogenic variant, and Arg31His, which is a suggested uncertain/unconflicting variant. According to ClinVar, MYL3 is expressed only in the heart. PolyPhen-2 and SIFT were used to further evaluate the pathogenicity of the three variants.
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