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Analysis of Alzheimer\u27s Associated ADAM10 Mutations
Get PDFAlzheimer’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.https://ouscholars.oakwood.edu/student-posters/1079/thumbnail.jp
Implications of PIK3CA on Breast and Ovarian Cancer
Get PDFBreast 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.https://ouscholars.oakwood.edu/student-posters/1072/thumbnail.jp
Analysis of Mutations of HYDIN Gene Associated with Hypertension
Get PDFHypertension 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.https://ouscholars.oakwood.edu/student-posters/1064/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. 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.https://ouscholars.oakwood.edu/student-posters/1062/thumbnail.jp
An analysis of HTT involvement in Huntington’s Disease
Get PDFHuntington\u27s disease is a neurodegenerative disorder characterized by loss of striatal neurons. These striatal neurons are essential in cognition, motor function, decision-making, motivation, reinforcement, and reward perception. Affected individuals may show symptoms such as isolation, lack of motivation, depression, mood swings, and personality changes. This study’s purpose is to analyze and highlight the variants of the HTT gene in the pathogenesis of Huntington’s disease.https://ouscholars.oakwood.edu/student-posters/1093/thumbnail.jp
The Analysis of Variants of the ATM Gene in Breast Cancer
Get PDFBreast Cancer is defined as abnormal cell growth within the breast tissue, resulting in a tumor. Those affected by this disease often experience lumping in the breasts, changes in breast size and shape, nipple retraction, skin dimpling, and redness and irritation of the breast. This disease most commonly affects women, but men can be affected as well. Although subject to variation due to race and ethnicity, approximately 13% of women will be diagnosed with breast cancer throughout their lifetime. With further study and new treatment methods, the mortality rate is steadily decreasing. The purpose of this research is to analyze how mutations in the ATM gene affect the progression of this disease.https://ouscholars.oakwood.edu/student-posters/1088/thumbnail.jp
The Genetic in Alzheimer
Get PDFAlzheimer\u27s disease (AD) is a neurodegenerative brain disorder that affects memory, thinking and behavior. It is the most common form of what is known as dementia, which is a loss of brain function that interferes with daily life. Some genetic mutations responsible for AD have been reported. This study’s purpose is to identify and assess the pathogenicity of APOE variants that may be associated with an increased likelihood of early onset and rapid progression of Alzheimer\u27s disease.https://ouscholars.oakwood.edu/student-posters/1124/thumbnail.jp
HYDIN Gene Variants: Implications in Primary Ciliary Dyskinesia and Other Diseases
Get PDFHYDIN is a gene that encodes a protein potentially involved in cilia motility. Mutations in this gene cause autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by cerebrospinal fluid accumulation within the brain\u27s ventricles. This study aims to identify and assess the pathogenicity of HYDIN variants.https://ouscholars.oakwood.edu/student-posters/1107/thumbnail.jp
An Analysis of PON1 Variants Associated with Cardiovascular Disease (CVD)
Get PDFCardiovascular Disease (CVD) encompasses a broad range of conditions that affect the heart and blood vessels and remains one of the leading causes of death worldwide. CVD can be attributed to various risk factors, including high blood pressure, diabetes, and high cholesterol. However, genetic factors also play a significant role in the predisposition to cardiovascular diseases. The purpose of this study is to understand the role of the PON1 gene and its involvement in protecting against CVD.https://ouscholars.oakwood.edu/student-posters/1104/thumbnail.jp
An Analysis of Diabetes Associated with APPL1 Variants D94N and R46W
Get PDFDiabetes 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.https://ouscholars.oakwood.edu/student-posters/1073/thumbnail.jp