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Impact of SMAD 4 Gene to Juvenile Polyposis Syndrome
Get PDFJuvenile polyposis syndrome (JPS) is a rare autosomal dominant disease in the gastrointestinal (GI) tract that grows benign, juvenile polyps. With the ability to become malignant in the future, juvenile polyps are a serious threat to children under 18 years old. Once these genes have mutated, this genetic disability will persist within the family for generations. The study aims to understand the impact of mutations within this disease and identify potential pathogenic missense mutations of the SMAD 4 gene found in JPS.https://ouscholars.oakwood.edu/student-posters/1119/thumbnail.jp
Analysis of Mutations in BMPR2 Gene Associated with Hypertension
Get PDFMutations 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.https://ouscholars.oakwood.edu/student-posters/1115/thumbnail.jp
Analysis of MAPT on Alzheimer’s Disease
Get PDFAlzheimer’s is the 7 th most common cause for death in humans and unfortunately has no cure. Coincidentally the gene MAPT (microtubule-associated protein tau) increases chances of obtaining Alzheimer\u27s. The purpose of this study is to discover the mutation that resides within this gene. A website database called Simple Clinvar was used to generate information concerning Alzheimer’s disease and the different genetic variants associated with the disease. The SIFT algorithm was used to show whether the changes in amino acid sequences of the MAPT gene can affect protein function. PolyPhen was another prediction algorithm used to predict the influence that amino acid substitutions have on the expression and function of proteins. The MAPT gene (Microtubule Associated Protein Tau) provides instructions for making a protein called tau, which plays a crucial role in stabilizing microtubules structures that help maintain cell shape and enable intracellular transport, especially in neurons. The MAPT gene belongs to the MAP superfamily, which includes proteins that regulate microtubule dynamics, stability, and interactions within the cell, particularly in neurons. The MAPT gene regulates intracellular transport, specifically transport in neurons. It primarily influences the movement of cellular cargo along microtubules, which act as highways for transporting proteins, organelles. The conserved domains occur on the 1- 449 interval. The Arg5Leu mutation was predicted to be probably damaging with a PolyPhen score of 0.663/1.0. The Arg5His mutation was predicted to be possibly damaging, with a PolyPhen score of 0.944/1.0. The MAPT gene is associated with several neurodegenerative diseases, collectively known as tauopathies, where abnormal tau protein aggregation leads to neuronal dysfunction and death. The expression of these mutations has been linked to a higher risk of developing Alzheimer’s disease.https://ouscholars.oakwood.edu/student-posters/1110/thumbnail.jp
The Influence of MEF2C Variants on Autism Development
Get PDFAutism 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.https://ouscholars.oakwood.edu/student-posters/1100/thumbnail.jp
An Analysis of OAS1 Variants Associated in Diabetes Mellitus
Get PDFDiabetes 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.https://ouscholars.oakwood.edu/student-posters/1082/thumbnail.jp
Analysis of ABCA3 Variants Associated with Hypertension
Get PDFHypertension, 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.https://ouscholars.oakwood.edu/student-posters/1127/thumbnail.jp
An Analysis of CAPN-10 Variants Associated with Polycystic Ovarian Syndrome
Get PDFPolycystic 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.https://ouscholars.oakwood.edu/student-posters/1077/thumbnail.jp
An Analysis of ABCA3 variants Associated With Hypertension
Get PDFHypertension 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.https://ouscholars.oakwood.edu/student-posters/1076/thumbnail.jp
Analysis of WWOX Gene Associated with Cancer
Get PDFCancer 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.https://ouscholars.oakwood.edu/student-posters/1089/thumbnail.jp
BRCA1 Variants and Associations With Breast Cancer
Get PDFBreast 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.https://ouscholars.oakwood.edu/student-posters/1118/thumbnail.jp