OUScholars Oakwood University
Not a member yet
207 research outputs found
Sort by
CHEK2 in Cancer Suppression: Investigating Genetic Variants and Their Impact
Get PDFCancer 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.https://ouscholars.oakwood.edu/student-posters/1120/thumbnail.jp
EED Gene Variants and Irritable Bowel Syndrome: A Genetic Approach to Understanding IBS
Get PDFIrritable Bowel Syndrome is a disease linked with the gastrointestinal system and seen to cause bloating, abdominal pain, and harmful alterations in the digestive system. Its cause is complex and is known to have both environmental and genetic factors. Recent studies have shown that IBS occurs due to genetic variations, which leads to the pathogenesis of IBS. One gene, the EED (Embryonic Ectoderm Development) gene has been involved in various biological processes, particularly gastrointestinal functions. The purpose of this study is to explore the potential relationship between the EED gene and IBS.https://ouscholars.oakwood.edu/student-posters/1117/thumbnail.jp
Effects of Cell-Free Supernatants of Commercial Yogurt Products on Salmonella Survival
Get PDFSalmonellosis remains a global public health challenge and Salmonella enterica serovar Enteritidis and Typhimurium are the primary causes. Salmonella virulence mechanisms involve attachment and invasion of intestinal epithelial cells. Gut microbiota and probiotics that contain Lactobacillus species have been shown to prevent Salmonella infection. Yogurt is a commonly consumed probiotic product containing Lactobacillus species. Yogurts made under laboratory conditions and the cell-free supernatants have been shown to inhibit Salmonella growth. The many commercial yogurt products on the market may vary in antimicrobial components based on production methods. Therefore, the present study aimed to evaluate the survival of 5 log CFU/mL of Salmonella inoculated into cell-free supernatants (CFS) of the following types of commercial yogurts: Greek whole milk plain, Greek nonfat plain, Greek nonfat vanilla, Greek zero sugar vanilla and dairy free almond milkfat. Trypticase soy broth adjusted to pH 4.5 served as the control. The CFS for all yogurt products inhibited the growth of S. typhimurium as zero CFU were observed on Tryptic Soy agar after 24 and 48 h incubation at 37°C, compared to 7.6±0.8 log CFU/mL at 24 h and with the control. Our findings suggest that commercial yogurts produce bioactive compounds that inhibit S. typhimurium growth. Because the human gut environment is complex, in vivo studies are needed to determine the impact of commercial yogurts on salmonellosis.https://ouscholars.oakwood.edu/student-posters/1114/thumbnail.jp
Investigating ALK, PHOX2B, and BRCA2 Gene in Relation to Neuroblastoma
Get PDFOne of the biggest mysteries of cancer today is Neuroblastoma. Neuroblastomas are malignancies originating from the early nerve cells of the sympathetic nervous system, often known as neuroblasts. Neuroblasts can occur anywhere throughout the sympathetic nervous system. About one-third of infants are diagnosed with neuroblastoma by the time they turn one year old and the disease frequently starts in infancy. By the age of five, almost 75% have a diagnosis. Neuroblastomas are present in some newborns, but they are not identified until later, when the child or infant starts exhibiting symptoms. Adult cases of NB are quite rare. The majority of neuroblastomas are caused by genetic alterations in neuroblasts that take place during a child\u27s development, sometimes even prior to birth. With present treatment methods, fewer than half of children with aggressive neuroblastoma will live for more than five years. Right now there are no guaranteed solutions for the three genes that were researched were ALK, PHOX2B, and BRCA2. The ALK gene codes for the production of the protein ALK receptor tyrosine kinase, a member of the receptor tyrosine kinase (RTK) protein family. Through a process known as signal transduction, receptor tyrosine kinases carry signals from the cell surface into the cell. One protein that helps repair damaged DNA is coded for by the tumor suppressor gene BRCA2. It is one of the genes most commonly affected in cases of familial ovarian and breast cancer. Certain changes in the BRCA2 gene, referred to be risky variants or mutations, can result in cancer. The PHOX2B gene provides instructions for making a protein that is important during development before birth. The PHOX2B protein helps support the formation of nerve cells (neurons) and regulates the process by which the neurons mature to carry out specific functions (differentiation). Some people with PHOX2B gene mutations have both neuroblastoma and Hirschsprung disease. Variations in the PHOX2B gene impact the autonomic nervous system and tissues originating from the neural crest, increasing the likelihood of developing both conditions. While abnormalities in the PHOX2B gene impair the normal development of the sympathetic nervous system, mutations in the ALK gene cause irregular growth of neural crest cells. My Hypothesis is that I think I will find a specific gene that Is linked to more aggressive types of cancer besides neuroblastoma. Since Neuroblastoma has no cure or way to detect it, this information is important to find a way to identify the problem before it has affected the child.https://ouscholars.oakwood.edu/student-posters/1111/thumbnail.jp
The Analysis of THRA Variants in Hypothyroidism
Get PDFHypothyroidism is a disease where the thyroid gland does not produce enough thyroid hormone which causes Hashimoto’s disease and insufficient dietary iodine. This is also known as under active thyroid. Thyroid is a small, butterfly shaped gland in the front of your neck. Thyroid hormones control the way energy is dispersed. A defective thyroid and lacking thy hormones cause many functions in your body to slow down. This disease usually affects woman over the age of sixty years old. Studies show that 5 out of 100 Americans ages 12 years and older have hypothyroidism, although all cases may not be as severe as others. This study\u27s purpose is to assess and determine the pathogenicity of THRA variants linked to hypothyroidism.https://ouscholars.oakwood.edu/student-posters/1102/thumbnail.jp
Analysis of TERT Gene associated with Melanoma
Get PDFMelanoma 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.https://ouscholars.oakwood.edu/student-posters/1067/thumbnail.jp
Analysis of REST gene Variants Associated with Gingival Fibromatosis
Get PDFGingival fibromatosis is an oral disease characterized by the benign overgrowth of gum tissue in the mouth. An autosomal disorder, this disease is genetic and while cases may appear in isolation they can also be related to a syndrome. Gingival fibrosis has been associated with defects in the RE1- silencing transcription factor (REST) gene. The purpose of this study was to identify and analyze mutations in the REST gene and their pathogenicity.https://ouscholars.oakwood.edu/student-posters/1095/thumbnail.jp
An Analysis of DNAJC13 Variants Associated with Parkinson’s Disease
Get PDFParkinson\u27s disease (PD) is a progressive neurodegenerative disorder characterized by the loss of dopaminergic neurons, leading to motor impairments such as tremors, rigidity, and postural instability. Affecting millions worldwide, PD has been linked to both genetic and environmental factors. This study aims to identify and assess the pathogenicity of DNAJC13 variants associated with Parkinson\u27s disease.https://ouscholars.oakwood.edu/student-posters/1086/thumbnail.jp
A Bioinformatic Analysis of FOXO3 and TGFB3 Variants: Possible Pathways to Survivin Expression
Get PDFCancer 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.https://ouscholars.oakwood.edu/student-posters/1112/thumbnail.jp
Analysis of SIM1 Variants in Diabetes
Get PDFDiabetes is a chronic metabolic disorder characterized by high blood sugar levels due to either the body’s inability to produce enough insulin (Type 1 diabetes) or the cells’ resistance to insulin (Type 2 diabetes). Diabetes affects millions of people all around the world. Type 2 diabetes is the most common form and is the leading cause of many complications such as kidney failure, heart disease, and loss of vision. This study’s purpose is to identify and assess the pathogenicity of SIM1 variants associated with Diabetes.https://ouscholars.oakwood.edu/student-posters/1106/thumbnail.jp