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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.
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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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CHEK2 in Cancer Suppression: Investigating Genetic Variants and Their Impact
Elaine Vanterpool and Nicevarlyn Philippe
Cancer arises from uncontrolled cell growth, often due to mutations in genes that regulate DNA repair, cell cycle checkpoints, and apoptosis. The CHEK2 gene encodes checkpoint kinase 2, a critical tumor suppressor protein activated in response to DNA damage. CHEK2 halts the cell cycle to allow for DNA repair, stabilizes the tumor suppressor p53, and interacts with BRCA1 , helping to maintain genomic integrity and prevent the accumulation of harmful mutations. Disruptions in these processes can lead to the development and progression of various cancers. Mutations in CHEK2 have been linked to Li-Fraumeni syndrome, a rare but highly penetrant hereditary cancer predisposition syndrome typically associated with inherited TP53 mutations. These mutations increase the risk of developing breast, brain, thyroid, and several other tumor types. This study analyzes the pathogenic potential of two missense mutations in CHEK2: Ser194Cys and Ala190Val, both identified using ClinVar, a publicly accessible database that links genetic variants to clinical conditions. The goal is to assess whether these specific variants significantly affect CHEK2’s tumor suppressor function and contribute to increased cancer susceptibility through computational and structural analysis.
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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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Mutation in RPL10 Disrupts Ribosomal Function and Contributes to Autism Spectrum Disorder
Elaine Vanterpool and Paula Ramirez-Mejia
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by difficulties in social communication and restricted, repetitive behaviors, interests, or activities. A study in 2020 estimated that ASD affects 2.8% of children in the United States (NIMH). The RPL10 gene, encodes the Ribosomal protein L10, has been implicated in ASD and plays a crucial role in protein synthesis and neuronal development, contributing to a protein essential for assembling the large ribosomal subunit. This study investigates how variations in PRL10 (Ribosomal Protein L10) can contribute to ASD.
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Analysis of WWOX Gene Associated with Cancer
Elaine Vanterpool and Jovaughn Redley
Cancer is a disease caused by abnormal cell growth and uncontrollable spread throughout one’s body. According to the World Health Organization, about 1 in 5 people develop cancer: 1 in 9 in males and 1 in 12 in females (WHO). WWOX was the gene studied, and it has been reported to be involved in cancer progression. Specifically with Gastric cancer, an increase in invasion and migration of Gastric Cancer cells was caused by the WWOX gene. Simple ClinVar was used to identify WWOX as a gene and the three missense variants associated with the WWOX gene; Pro47Thr, Asp58Asn, and His46Tyr. WWOX is a tumor suppressor gene that encodes a protein of 414-amino acids, found in the Golgi system and the cytoplasm. It has a short chain of dehydrogenase/reductase central domain, and two WW domains. Polyphen-2 and SIFT were used to determine the pathogenicity of the three variants. PolyPhen-2 predicted that Pro47Thr was damaging, Asp58Asn was benign, and His46Tyr was damaging. SIFT predicted that Pro47Thr possibly impacts protein function, Asp58Asn was to be tolerated, and His46Tyr possibly impacts protein function. The pathogenicity of these mutations suggests that the VWOX protein could be affected by the mutations. It may also affect gene expression in different lung, breast, prostate, ovarian, and gastric cells. Further studies are being conducted for the WWOX gene and its variants. This study contributes to the ongoing research and implications of the WWOX gene, associated with cancer.
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An Analysis of LAMB3 Variants Associated with Amelogenesis Imperfecta
Elaine Vanterpool and Aaliyah Ruddock
Amelogenesis Imperfecta (AI) is an inherited tooth development disorder occurring in both child and adult patients. The teeth of those with this disease are often discolored, quite small, and prone to breakage. Not only can this disease affect the teeth directly but that of the surrounding gum, tissues, ligaments, and alveolar bones. Research has found over 14 different forms of this disease each distinguished by inheritance patterns and the various abnormalities. AI can be inherited through an X linked recessive pattern. This results in the disease being more pronounced in males as females can better combat the disease with their duo-X chromosomes. The significance of this study is to conduct research and analyze the pathogenicity of the LAMB3 gene associated with AI.
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Analysis of Mutations in BMPR2 Gene Associated with Hypertension
Elaine Vanterpool and Keury C. Ruiz
Mutations in the BMPR2 gene are primarily recognized for their role in the development of blood vessels, however, they have also been associated with the pathogenesis of high blood pressure, specifically in regards to altered vascular function and the endothelial cell signal. Early detection and targeted treatment, as well as lifestyle changes, are pivotal in reducing the risk of serious complications associated with high blood pressure. Recent genetic research and personalized medicine have demonstrated the potential to enhance the prevention, diagnosis, and treatment of high blood pressure, particularly through the identification of genetic mutations in the BMPR2 gene.
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The Role of NKX2-5 variants associated with Congenital Heart Disease
Elaine Vanterpool and Jayda Russell
About 1% of live births worldwide are affected by congenital heart disease (CHD), a group of structural heart defects that exist from birth. Finding and evaluating the effects of NKX2-5 variations linked to CHD is the goal of this study. From basic heart defects like atrial septal defects (ASD) to more intricate malformations, congenital heart disease (CHD) encompasses a variety of structural heart abnormalities. Its development is influenced by both environmental and genetic factors. NKX2-5 is a protein coding gene that encodes a home box- containing a transcription factor. This gene plays a role in the early development of the heart, and mutations in it have been connected to abnormalities of the conduction system and structural heart defects. Potential impacts of NKX2-5 mutations are assessed using computational tools such as SIFT and PolyPhen-2. The NKX2-5 variants Lys15lle andGln22Arg were evaluated to see if it was pathogenic or benign. Variant Lys15lle was predicted to be probably damaging by Polyphen-2 and predicted to affect protein function by SIFT analysis. The variant Gln22Arg mutation predicted to be benign by Polyphen-2 and predicted to affect protein function by SIFT. The pathogenicity of these mutations suggests that impaired gene function affects gene expression patterns necessary for healthy heart development and function. This study contributes to current research by examining the role of NKX2-5 mutations in the pathophysiology of CHD emphasizing the need for genetic screening and early diagnosis in affected individuals.
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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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Analysis of ABCA3 Variants Associated with Hypertension
Elaine Vanterpool and Ashlee Simpson
Hypertension, also known as high blood pressure, is a condition where the force of blood pushing against the artery walls is consistently too high. This results in the heart working harder than it needs to pump blood. Blood pressure is measured in millimeters of mercury (mm Hg). In those with hypertension, the blood pressure reading is 130/80 mm Hg or higher, 130/80 mm Hg and under being what’s considered normal (Mayo Clinic). The purpose of this study is to pinpoint and evaluate the pathogenicity of ABCA3 variants associated with 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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An Analysis of OAS1 Variants Associated in Diabetes Mellitus
Elaine Vanterpool and Ashley Tannis
Diabetes Mellitus, also known as Diabetes, is a chronic disease that occurs either when the pancreas does not produce enough insulin, a hormone that regulates blood sugar, or when the body builds insulin resistance and cannot effectively use the insulin, it produces. Recent studies have shown that in the year 2021, diabetes was the direct cause of 1.6 million deaths and 47% of all deaths due to diabetes occurred before the age of 70 years (World Health Organization). The purpose of this study is to examine and identify the pathogenicity of OAS1 and how it is associated with diabetes.
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An Analysis of SIM1 Variants Associated with Diabetes
Elaine Vanterpool and Jasmine Tomlin
Diabetes is a chronic condition that affects the body's use of glucose. This is due to insufficient production of insulin or the inability to effectively utilize insulin. There are two types of chronic diabetes, type 1 and type 2. These types are irreversible but can be managed with the right treatments. Prediabetes and gestational diabetes can be reversible. Whether they go away on their own or can be prevented from transitioning to something more serious. The purpose of this research study is to analyze the pathogenicity of the mutation SIM1 gene and its association with diabetes.
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BRCA1 Variants and Associations With Breast Cancer
Elaine Vanterpool and Tessa Tsoka
Breast cancer is a disease identified by the uncontrolled multiplication of mutated cells within breast tissues. As these cells accumulate, they can form a tumor which has the potential to metastasize to other organs and tissues within the body. While breast cancer primarily affects middle-aged women, it also can occur in men, though with a distinctly lower incidence ratio. In the United States, 1 in 8 women will develop breast cancer (American Cancer Society).The purpose of this study is to determine the pathogenicity of BRCA1 mutations in relation to Breast Cancer.
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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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A Bioinformatic Analysis of FOXO3 and TGFB3 Variants: Possible Pathways to Survivin Expression
Elaine Vanterpool and Jordon Vanterpool
Cancer affects millions of people worldwide. Recent studies show that survivin, a survival factor, is expressed in cancer cells and can be secreted. In this study, we focused on pathways leading to survivin abnormal expression in cancer cells. We used a bioinformatic approach to analyzing variants that could be associated with regulating survivin expression. The hypothesis of this study is that there are critical mutations of survivin and/or regulators of survivin which may lead to the increased expression of the survivin protein in cancer cells.
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Unveiling Genetic Links to Hypertension: SMAD4 Mutations and Their Predicted Impact
Elaine Vanterpool and Cailey Wilson
Hypertension or high blood pressure is when the force of blood pushing against your artery walls is consistently too high. This damages your arteries over time and can lead to serious complications like heart attack and stroke. Hypertension is another word for this common condition. Healthcare providers call high blood pressure a “silent killer” because you usually do not present with symptoms. Many are not aware that they have hypertension. This study’s purpose is to identify and assess the pathogenicity of SMAD4 variants associated with hypertension.
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MY09B AND CTLA4 EFFECTS ON CELIAC DISEASE
Elaine Vanterpool and Blake Woode
Celiac disease is a disease that restricts what people can eat. When the body overreacts to gluten it damages the tiny, hairlike projections, called villi, that line the small intestine. This affects millions of Americans. In this study, we search for the genes that affect this disease and why.
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Analysis of the role of TBR1 variants Glu223Gln and His681Gln in the development of ADHD
Elaine Vanterpool and Josel Bryant
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