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Analyzing the Inhibition Of Chemical Compounds On Protease in P. aeruginosa
Get PDFPseudomonas 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.https://ouscholars.oakwood.edu/student-posters/1060/thumbnail.jp
Unveiling Genetic Links to Hypertension: SMAD4 Mutations and Their Predicted Impact
Get PDFHypertension 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.https://ouscholars.oakwood.edu/student-posters/1081/thumbnail.jp
Analysis of DMD Variants Associated with Duchenne Muscular Dystrophy
Get PDFDuchenne Muscular Dystrophy is an X-linked recessive disorder that causes muscle weakness. This disease is characterized by frequent falls, difficulty walking, running, jumping, or scoliosis. Duchenne Muscular Dystrophy 1 in every 5000 boys worldwide causes a gene tic mutation that prevents the production of dystrophin. This study aims to identify and assess the pathogenicity of DMD variants associated with Duchenne Muscular Dystrophy. Genetic mutations responsible for Duchenne Muscular Dystrophy have been reported. Studies regarding DMD and its specific role in causing Duchenne Muscular Dystrophy have been reported to be accurate and effective. X-linked inheritance patterns are applied to this disease\u27s pathogenesis and genetic and environmental factors. ClinVar was used to identify the DMD as a gene associated with Duchenne Muscular Dystrophy and the multiple variants, single nucleotide missense mutations, p.Lys765Glu, p.His446Arg, and p.Thr715Ser. The DMD gene codes for a dystrophin cytoskeletal protein, a scaffold protein that is a crucial link between sarcolemma and actin cytoskeleton that helps stabilize muscle fibers during contraction. Pathogenic mutations in DMD are known to alter the expression of specific muscle tissues. The DMD protein is expressed in most skeletal and heart muscles. Computational tools SIFT and PolPhen-2 were used to determine the pathogenicity of the three variants.SIFT predicted the p.Lys765Glu to be damaging, p.His446Arg to be tolerated, and p.Thr715Ser to be tolerated. On the other hand, Polphen-2 predicted p.Lys765Glu to be damaging, and the other two mutations were benign. The pathogenicity of these mutations suggests that the functionality of the dystrophin cytoskeletal protein was affected, which also potentially affects the gene expression and the X chromosome within the spine. Previous studies have connected pathogenic mutations in DMD to Duchenne Muscular Dystrophy as they have implicated in dilated cardiomyopathy, which is observed in those with Duchenne Muscular Dystrophy.https://ouscholars.oakwood.edu/student-posters/1125/thumbnail.jp
MY09B AND CTLA4 EFFECTS ON CELIAC DISEASE
Get PDFCeliac 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.https://ouscholars.oakwood.edu/student-posters/1116/thumbnail.jp
CTSC gene Correlation with Dental Disease Periodontitis
Get PDFPeriodontitis 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.https://ouscholars.oakwood.edu/student-posters/1068/thumbnail.jp
Title: An Analysis of HMBS Variants Associated with Acute Intermittent Porphyria
Get PDFAIP, also known as acute intermittent porphyria is a disease commonly characterized by the deficiency of hydroxymethylbilane synthase (HMBS). It presents itself with abdominal pain nausea, vomiting, peripheral neuropathy, and seizures. 1 in 2000 of the population inherits a disease-causing (pathogenic) mutation in the HMBS gene. This suggests that 1% of those who inherit a pathogenic mutation will experience porphyria symptoms. (National Organization of Rare Diseases). HMBS encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the condensation of four porphobilinogen molecules into the linear hydroxymethylbilane (National Library of Medicine). Pathogenic mutations in HMBS are known to impair the enzymes’ ability to properly produce heme, an iron-rich molecule in the hemoglobin and myoglobin. The purpose of this study is to identify and assess the pathogenicity of HMBS variants associated with AIP.https://ouscholars.oakwood.edu/student-posters/1099/thumbnail.jp
An Analysis of LAMB3 Variants Associated with Amelogenesis Imperfecta
Get PDFAmelogenesis 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.https://ouscholars.oakwood.edu/student-posters/1098/thumbnail.jp
The Role of NKX2-5 variants associated with Congenital Heart Disease
Get PDFAbout 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.https://ouscholars.oakwood.edu/student-posters/1090/thumbnail.jp
Mutation in RPL10 Disrupts Ribosomal Function and Contributes to Autism Spectrum Disorder
Get PDFAutism 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.https://ouscholars.oakwood.edu/student-posters/1087/thumbnail.jp
An Analysis of PDGFRA variants associated with Fibroids
Get PDFOriginally research was to be conducted on the effects of gene mutations associated with endometriosis, but there was not a substantial amount of information in the database for an adequate study. Instead, research was done on the genes associated with Fibroids. Fibroids are commonly characterized as benign tumors that typically form in the wall of the uterus. Fibroid symptoms usually include heavy menstrual bleeding, prolonged periods, and pelvic pain. In some cases, there are no symptoms. Statistically, fibroids affect 20–30% of women ages 30–50. This study’s purpose is to identify and analyze the pathogenicity of PDGFRA (platelet-derived growth factor receptor alpha) variants associated with fibroids.https://ouscholars.oakwood.edu/student-posters/1121/thumbnail.jp