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Bioinformatics Analysis of the MBL2 Missense Variants Associated with Cystic fibrosis

Elaine Vanterpool and Kiar-Ra Cameron

Cystic fibrosis (CF) is an autosomal recessive disease commonly recognized by thick mucus and loud coughs. The manifestation of these symptoms is due to the inability of chloride ions to diffuse out of the cell. Thus, preventing osmosis resulting in a thick mucus on the lung’s surface. Those who suffer from this disease have difficulty breathing and require a modulator with a vest to increase gas exchange in the lungs. Moreover, the disease can result in much pain due to coughs, which destroys ciliated epithelial cells. Patients who have cystic fibrosis can suffer from pneumonia and other bronchial infections. They also experience difficulties with secretions out of exocrine glands. The low-frequency gene, Mannose Binding Lectin-2 (MBL2) associated with cystic fibrosis was analyzed for this study. This gene encodes for a protein that plays an integral role in the innate immune system. It binds to the mannose and N-acetylglucosamine found on the surface of pathogens. It then removes the pathogen by signaling the lectin complement system and phagocytic cells. The purpose of this study was to observe the missense mutations within this gene. Computational tools were used to view the mutated variants, the 3-D modelling, and conserved domains. The simple ClinVar database identified variants within this gene. Polyhen2 was used to analyze the pathogenicity of Gly54Asp and Pro101Leu. The computational tool predicted Gly54Asp as "probably damaging” with a 1.00 sensitivity score. The Pro101Leu swap was deemed to be “benign” with a sensitivity score of 0.043. Upon further analysis, the SIFT tool predicted the substitution to affect the protein. The second variant, Pro101Leu was predicted to be "tolerated". The SWISS modelling further identified the physical changes in the protein structure. Analysis of mutations within this gene can prevent other infections; ultimately, preventing the exhibition of cystic fibrosis.
An Analysis of CAPN-10 Variants Associated with Polycystic Ovarian Syndrome

Elaine Vanterpool and Azaria Carey

Calpain 10 (CAPN-10): A calcium independent protein in the calpain family involved in cell structure, signaling, and metabolism. oKey Functions: Regulates sugar metabolism, energy production, and insulin release, making it crucial for metabolic health. oType 2 Diabetes: CAPN-10 was the first gene linked to T2DM in the early 2000s. oGestational Diabetes: CAPN-10 variations contribute to insulin release and pancreas function, increasing risks for both mother and child. oPolycystic Ovary Syndrome (PCOS): CAPN-10 changes may exacerbate PCOS-related issues like insulin resistance, weight gain, and heart disease. o Purpose: to further clarify the role of CAPN-10 mutations in PCOS and their broader implications for the disease's pathophysiology.
An Analysis of CAPN-10 Variants Associated with Polycystic Ovarian Syndrome

Elaine Vanterpool and Azaria Carey

Polycystic 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.
Silver Nanoparticles and Natural Compounds can Modulate Proteolytic Activities of Escherichia coli

Elaine Vanterpool, Simone Chotan, Wendolyn Johnson, Emilee Duany, and Antonio Ward

Investigating the impact of antibacterial agents on Escherichia coli (E. coli) protease activity is vital for advancing new approaches to combat bacterial infections. Proteases are crucial enzymes in bacterial physiology that contribute to immune system evasion, biofilm development, and host tissue degradation. Due to these enzymes being directly involved in E. coli virulence, understanding how antibacterial compounds affect protease function may lead to innovative treatment strategies. E. coli is a gram-negative, facultatively anaerobic bacterium that exists both as a harmless intestinal commensal and a significant human pathogen. Many lives have been negatively affected by severe E. coli infections in the United States approximately 2,200 hospitalizations and 60 deaths occur annually, with contaminated food and water being common sources of outbreaks. As antibiotic resistance among E. coli strains continue to prevail, there is a growing need for alternative therapeutic interventions. E. coli pathogenesis can be so prevalent due to its ability to produce proteases; which is essential for bacterial survival. Proteases are enzymes such as OmpT, which facilitate resistance against antimicrobial peptides. Targeting protease enzymatic activity could provide an effective means of reducing E. coli virulence. This research concentrated on the effects testing agents such as Vanillin, metronidazole, and silver nanoparticles have on E. coli protease activity. Metronidazole is commonly used against anaerobic bacteria, and beneficial in treating skin, mouth, and rosacea infections. It involves a nitro group reduction to form reactive radicals that can damage DNA and cellular components. Vanillin is a natural occurring compound, that possess antimicrobial properties that include membran disruption and enzyme inhibition. Silver nanoparticles present a broad-spectrum antibacterial activity, interfering with bacterial enzymatic function, inducing oxidative stress, and disruption bacterial membranes. To further examine these effects, E. coli cultures were treated with each testing agent (metronidozle, silver nanoparticles, and vanillin), and protease activity was assessed by the EnzChek Protease/Peptidase assay kit. The findings of this research indicated that while all three agents influenced protease activity to varying degrees, silver nanoparticles displayed the more pronounced inhibitory effect. By analyzing the interaction between the various testing agents and E. coli proteases, this research provides valuable insight into bacterial virulence mechanisms and the potential for future antimicrobial therapeutics and ultimately reducing E. coli infections.
Analyzing the Inhibition Of Chemical Compounds On Collagenase in P. aeruginosa

Elaine Vanterpool, Marielle Cooper, and KiaRa Cameron

Pseudomonas aeruginosa is an opportunistic pathogen that poses significant challenges in clinical treatment due to its production of collagenase. This bacterium can cause several infections including pneumonia, meningitis, septicemia, and a host of other diseases. Collagenase acts as a key virulence factor by breaking down collagen in the host’s extracellular matrix, allowing bacteria to invade tissues. This study hypothesized that the effects of cell secreted collagenase would be inhibited by metronidazole, vanillin, and silver nanoparticles to reduce the pathogenicity of Ps. aeruginosa related infections.
An analysis of VHL and its relation to Leukemia

Elaine Vanterpool and Marquise De Velde

Leukemia is a special type of cancer caused by the overproduction of abnormal white blood cells. It is the cancer of blood-forming tissues such as the bone marrow, making it difficult to fight against foreign agents. Leukemia is the 10th most common cancer accounting for 3.1% of all new cancer cases and 3.9% of all cancer deaths (National Institute of Health). The purpose of this study is to analyze the potential genetic mutations or variants associated with the leukemia phenotype.
An analysis of VHL and its relation to Leukemia

Elaine Vanterpool and Marquise DeVelde

Leukemia is the cancer of the body’s blood-forming tissues, including the bone marrow and the lymphatic system. Mainly, leukemia effects the white blood cells. The malignancy known as leukemia damages the body's capacity to make healthy blood cells and starts in the bone marrow. White blood cells, which are essential to the immune system, are its main target. Leukemia disrupts normal blood function by causing an aberrant multiplication of immature blood cells, in contrast to other malignancies that create solid tumors. The disease is divided into various categories according to the particular blood cells impacted, and it can develop either quickly (acute leukemia) or slowly (chronic leukemia). An important gene that fights against this type of cancer is the VHL (Von Hippel-Lindau gene). Increased activity of hypoxia-inducible factors (HIFs), which support the survival and growth of aberrant blood cells, can result from VHL dysregulation. Leukemia may progress as a result of this disturbance of oxygen balance and cellular metabolism, especially when the milieu in the bone marrow becomes conducive to malignant transformation. Furthermore, changes or mutations in VHL may affect how leukemic cells react to chemotherapy, which could affect the course of treatment. The purpose of my research was to find the relation of a missense mutation in this specific gene and how it is related to the disease of Leukemia. This specific gene is found ink most parts of the body due to the fact that it not only defends leukemia but many other cancers as it is mainly tumor suppressor gene. It mainly defends against the Von Hippel-Lindau disease, which is a disease that causes tumors and cysts to develop in various organs in the body
An Analysis of ABCA3 variants Associated With Hypertension

Elaine Vanterpool and Lisa-Faith Dieujuste

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 . ABCA3 is a protein that is involved in the development of hypertension. ABCA3 is part of the ATP-binding cassette transporter family. It is a multi-membrane spanning protein meaning it has to do with the transporting, signaling and structure of cells. It plays a crucial role in the regulation of pulmonary surfactant homeostasis, but its main objective is to provide instruction to make protein that is involved in the production of surfactant. Surfactant is mixture of phospholipids and proteins that function to reduce surface tension in the lungs. It lines the lung tissue and makes breathing easier. Without it, the tissue surrounding the air sacs will stick together causing a collapsion of the alveoli. Eventually breathing becomes harder and oxygen is not able to make its way in the body.
An Analysis of DAGLA Variants Associated with ADHD

Elaine Vanterpool and Zahra Dulan

The human genome is largely responsible for each individual’s unique physical and physiological development. It contains thousands of genes with multiple alleles that code for proteins with various functions. Mutations in these genes have the potential to lead to the development of human diseases and disorders. Therefore, properly analyzing mutated genes is essential to understanding their potential pathogenicity in various diseases and disorders. It may also provide a basis for the development of new therapies. The DAGLA gene encodes a protein called diacylglycerol lipase alpha. This enzyme is involved in the biosynthesis of 2-arachidonoyl-glycerol, a key player in the endocannabinoid system. The endocannabinoid system has been associated with neuropsychiatric diseases. This protein has been shown to play a major role in the development of the central nervous system and synaptic plasticity. Previous studies have associated rare variants of the DAGLA gene with seizures and neurodevelopmental disorders, including autism and abnormal brain morphology. It has also been associated with alcoholism and is possibly influenced by stress. This gene is primarily expressed between school age and young adulthood. ClinVar was used to identify the DAGLA gene as one associated with attention deficit hyperactivity disorder (ADHD). This disorder is characterized by difficulty focusing and staying on task, trouble with organization and memory, impulsivity, and hyperactivity, including restlessness or excessive talking. Individuals with this disorder may also struggle to maintain healthy relationships, regulate emotions, or deal with responsibilities. The pathogenicity of the DAGLA gene for this disorder has yet to be determined
An Analysis of SCO2 Variants Associated with Dilated Cardiomyopathy

Elaine Vanterpool and Mitspah Eshette

Dilated cardiomyopathy (DCM) is characterized by severe damage to the heart muscle. The left ventricle becomes enlarged and then thins, causing it to pump with less force than it should. After each beat, more blood remains in the heart, making it challenging for the heart to supply blood to other parts of the body. If the patient is younger than 50, Black, male, and has a family history of dilated cardiomyopathy, they may be at higher risk. DCM has various causes, including coronary artery disease, diabetes, heart attacks, and high blood pressure. However, one of the major causes of DCM is genetic mutation; more than 50% of patients diagnosed with DCM have hereditary cardiomyopathy. Scientists predict that DCM is a known monogenic disorder that is primarily transmitted as an autosomal dominant trait. However, autosomal recessive, X-linked, or mitochondrial inheritance patterns may also play a role. This research will focus on the mutation of the SCO2 gene. This gene has been recently linked to fatal infantile cardioencephalomyopathy and severe COX deficiencies in both heart and skeletal muscle. Most patients diagnosed with a SCO2 mutation exhibit a deficiency of Cytochrome c Oxidase (COX), the terminal enzyme complex of the mitochondrial electron transport chain. This enzyme transfers electrons from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane.
CTSC gene Correlation with Dental Disease Periodontitis

Elaine Vanterpool and Misiel Garcia

Periodontitis is a chronic inflammatory and non-communicable disease that poses a major public health challenge worldwide. In the United States alone, approximately 50% of adults are affected by this condition. It results from bacterial infection and dental plaque buildup, leading to gum inflammation, bleeding, bone loss, and, if left untreated, tooth loss. Beyond its effects on oral health, periodontitis is linked to systemic diseases such as cardiovascular disease and diabetes, making it a significant health concern. Treatment involves professional dental care, including oral hygiene education, deep cleaning of root surfaces, and reducing risk factors like smoking. In addition to environmental factors, genetics play a crucial role in an individual's susceptibility to periodontitis. One gene of interest is CTSC (cathepsin C), located on chromosome 11q14.2. This gene encodes cathepsin C, a lysosomal protease involved in immune function and connective tissue maintenance. Mutations in CTSC have been associated with rare syndromes involving periodontal tissue, suggesting a role in disease pathogenesis. This research provides insight into the molecular mechanisms underlying periodontitis and emphasizes the need for further genetic studies in periodontal disease.
Analysis of SIM1 Variants in Diabetes

Elaine Vanterpool and Shayne Gordon

Diabetes 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). 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. Gestational Diabetes which is developed during pregnancy and may go away after birth. SIM1 is a gene, known as ”single-minded”, that I choose to research for this study. SIM1 is a gene that plays a role in the regulation of glucose metabolism and insulin secretion. Mutations in SIM1 have been associated with an increased risk of developing type 2 diabetes by disrupting normal metabolic control and insulin resistance.
An Examination of LACC1 variants Linked to Rheumatoid Arthritis

Elaine Vanterpool and Rochelle Gunter

Rheumatoid arthritis is an inflammatory disease with an annual diagnosis rate of 70 cases per 100,000 people. This is a disease that is usually identified by the abnormal entry of immune cells, such as B lymphocytes, T lymphocytes, and innate lymphoid cells, into the synovial tissues of the joints. When these immune cells infiltrate the joints, they can become too active, thereby contributing to the chronic inflammatory response characteristic of the disease. The objective of this study is to identify and evaluate the pathogenic potential of LACC1 variants implicated in the pathogenesis of arthritis. Simple ClinVar identified LACC1 as a gene implicated in the pathogenesis of arthritis, along with its two distinct variants: Cys284Arg and Met1Ile.
Bioinformatic Analysis of EPCAM Variants Associated with Colorectal Cancer

Elaine Vanterpool and Taylor Hall

Colorectal cancer is the uncontrolled cell growth on the first and largest part of the intestine, the colon. Colorectal cancer, known as the “silent disease”, is easily undetected, especially in its early stages. It can be asymptomatic for years, and without the proper diagnosis, it can become fatal. Once symptoms start to appear, a patient can have rectal bleeding, fatigue, weight loss, changes in bowel habits, and more. Comprehending the pathogenesis of Colorectal cancer and enquiring about preventative measures against this disease requires awareness of the variants that play a part in this cancer. To start this study, we first used Simple Clinvar to identify a gene from this illness. There were hundreds of phenotypes, variants, and genes related to this disease. The gene that was chosen as the focus for this project was EPCAM. We then created a new search in Simple Clinvar on the gene EPCAM. We found that EPCAM or Epithelial Cell Adhesion Molecule encodes proteins that help with cell migration and differentiation of epithelial tissues, while also providing instructions on making a protein known as an epithelial cellular adhesion molecul
An Analysis of DGUOK Variants Associated with Mitochondrial DNA Depletion Syndrome

Elaine Vanterpool and Ethan Harris

Mitochondrial DNA Depletion Syndrome(MDDS) is a clinically heterogeneous group of autosomal recessive mitochondrial disorders that reduces the number of mitochondrial DNA (mtDNA) in the affected cells. This disease is characterized by the disruption of hepatocytes, skeletal muscle, and cerebral function. This study's purpose is to identify and assess the pathogenicity of DGUOK variants associated with MDDS.
An Analysis of DGUOK Variants Associated with Mitochondrial DNA Depletion Syndrome

Elaine Vanterpool and Ethan Harris

The DGUOK is a nuclear gene that codes for the enzyme deoxyguanosine kinase, an essential protein in maintaining mitochondrial DNA and producing mitochondria. Mutagens in this gene can result in deoxyguanosine kinase deficiency, an inherited disorder that disrupts liver, muscle, and cerebral function. Manifesting from biallelic pathogenic variants, Mitochondrial DNA Depletion Syndrome ((MDDS) is a clinically heterogeneous group of autosomal recessive mitochondrial disorders that significantly reduce the number of mitochondrial DNA (mtDNA) in the affected cells. This results in stifled ATP synthesis, decreased energy reserves, and cellular dysfunction. As such, energy-dependent tissues such as the liver, heart, skeletal muscles, and brain are vulnerable to mtDNA depletion. The two presentations of MDDS are Multi-systemic disease, characterized by psychomotor delays, rotary nystagmus, hypotonia, and severe progressive liver dysfunction, and Isolated Hepatic Failure, characterized by Hepatomegaly, Cholestasis, and liver failure. These disorders can cause progressive neurological impairment as well as liver failure. This syndrome prominently appears in neonates and infants but also afflicts the adult population. Infants with this disorder typically have hypoglycemia and lactic acidosis. MDDS is associated with DGUOK, MPV17, POLG, and other gene variants. Moreover, liver and muscle tissue samples show reduced mtDNA copy numbers, an increased number of mitochondria with abnormal cristae, and a combined deficiency of the liver respiratory chain complexes I, III, and IV. To identify the disorder, patients are tested for DGUOK deficiency through genetic testing utilizing biochemical derangements such as conjugated hyperbilirubinemia. As a result of poor prognosis in patients with DGUOK deficiency, liver transplants are generally encouraged except for those who have sustained significant neurological deterioration and abnormalities. The purpose of my CODE Research Project is to analyze MDDS and its correlation to Glu165Val, Val121Leu, and His66Gln deoxyguanosine kinase (DGUOK) gene variants.
Investigating ALK, PHOX2B, and BRCA2 Gene in Relation to Neuroblastoma

Elaine Vanterpool and Joshua Henry

Neuroblastoma is an aggressive childhood cancer of immature nerves. Less than 10% of neuroblastoma (NB) cases affect kids older than ten years of age. Adult occurrences of NB are extremely rare. Majority of neuroblastomas are caused by genetic alterations in neuroblasts that take place during a child's development, occasionally even prior to birth. More than 60% of survivors of long-term childhood cancer have chronic illnesses because of their treatment, and more than 25% have a serious or potentially fatal illness. Signs and symptoms of neuroblastoma include bone pain or a lump in the abdomen, neck, or chest. With today's methods of treatment, less than half of children with aggressive neuroblastoma will survive for more than five years. Surgery is an important part of treatment for children at intermediate risk, but it is rarely enough on its own. Chemotherapy is usually administered to children in intervals of 4 to 8 cycles, or 12 to 24 weeks, before or following surgery. Typically, doxorubicin, etoposide, carboplatin, and cyclophosphamide are the chemotherapy medications utilized. Surgery may be performed to remove any residual tumor if chemotherapy is administered beforehand. Normally, radiation therapy is not necessary unless the tumor is not responding well to chemotherapy or if the tumor is causing symptoms in a kid that needs immediate attention. It is unknown what triggers these permanent gene alterations. It's possible that these are only chance occurrences that often take place inside cells, with no outside factor. ALK or PHOX2B gene mutations are the cause of hereditary neuroblastoma. Genes include information on how body cells should operate. The growth, division, and death of nerve cells are regulated by the ALK and PHOX2B genes. New and advancing treatments are Proton therapy and MIBG. Proton therapy, often referred to as proton beam therapy, is a kind of radiation treatment in which positively charged atoms with high energy protons are used to harm the DNA of cancerous cells. This particular kind of cancer treatment is accurate, painless, and non-invasive. MIBG, a substance that sticks to and is absorbed by neuroblastoma cells, is chemically joined to 131I, a radioactive form of iodine. When this combination is given to neuroblastoma patients, the radioactive molecules are absorbed by neuroblastoma cells, killing them without causing too much damage to healthy cells nearby. The development of 131I-MIBG targeted radiopharmaceutical treatment for neuroblastoma patients with new diagnoses and relapses is being spearheaded by Cincinnati Children's Hospital. ALK receptor tyrosine kinase, a member of the receptor tyrosine kinase (RTK) family of proteins, is made using instructions derived from the ALK gene. A process known as signal transduction is used by receptor tyrosine kinases to transfer messages from the cell surface within the cell. The kinase binds to a comparable kinase (dimerizes) after being activated at the cell surface to start the process. Phosphorylation is the process by which the kinase is marked with a phosphate group, which is a cluster of oxygen and phosphorus atoms, following dimerization. Kinase activation occurs when phosphorylation occurs. Another protein within the cell may receive a phosphate group transfer from the active kinase, activating that protein accordingly. A signaling pathway's sequence of proteins carry on the activation. Numerous biological activities, including cell growth and division (proliferation) and maturation (differentiation), depend on these signaling pathways. ALK gene expression is linked to several diseases, such as lymphoma and neuroblastoma. ALK genes can mutate in non-small cell lung cancer anywhere in the body, but when they do so in a lung cell, the resultant kind of lung cancer is known as ALK-positive non-small cell lung cancer. The BRCA2 gene is a tumor suppressor that codes for a protein that aids in the repair of damaged DNA. It is among the genes most frequently impacted in cases of ovarian and breast cancer that run-in families. Cancer may arise from specific alterations in the BRCA2 gene, known as dangerous variations or mutations. Individuals who inherit deleterious mutations in this gene are more likely to develop many malignancies, including ovarian and breast cancers, among other cancer types
Investigating ALK, PHOX2B, and BRCA2 Gene in Relation to Neuroblastoma

Elaine Vanterpool and Joshua Henry

One 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's 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.
Mutations in the PMS1 Gene Associating with Ovarian Cancer

Elaine Vanterpool and Erin Hough

Ovarian cancer occurs when abnormal cells in the ovaries grow and divide uncontrollably, destroying healthy body tissue. Common symptoms of ovarian cancer include weight loss, fatigue, discomfort in the pelvic area, or changes in bowel habits. This study focuses on how ovarian cancer is related to the PMS1 gene. The PMS1 gene encodes MLH1, a protein involved in DNA mismatch repair (MMR) system. MMR helps connect errors that occur during DNA replication, preventing mutations and potential cancer development. When this gene is mutated, there is an increased risk of developing ovarian and other endometrial cancer. Bioinformaic softwares allow us to analyze and observe various mutations of the gene and its implications
Mutations in the PMS1 Gene Associating with Ovarian Cancer

Elaine Vanterpool and Erin Hough

The female reproductive system contains two ovaries on each side of the uterus, producing eggs and hormones such as estrogen and progesterone. Ovarian cancer occurs when abnormal cells in the ovaries grow and divide uncontrollably, destroying healthy body tissue. Common symptoms of ovarian cancer include weight loss, fatigue, discomfort in the pelvic area, or changes in bowel habits. The goal of this research is to understand and identify the pathogenicity of the PMS1 gene in ovarian cancer and factors associated specifically with the mutation.
EED Gene Variants and Irritable Bowel Syndrome: A Genetic Approach to Understanding IBS

Elaine Vanterpool and Ted Howard

Irritable 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.
EED Gene Variants and Irritable Bowel Syndrome: A Genetic Approach to Understanding IBS

Elaine Vanterpool and Ted Howard

Irritable Bowel Syndrome is a disease associated with the gastrointestinal tract that can cause abdominal discomfort, bloating, and alterations in the digestive tract. Its etiology remains complex, involving both genetic and environmental factors. Recent studies suggest that genetic variations may contribute to the pathogenesis of IBS. One such gene, the EED (Embryonic Ectoderm Development) gene, has been implicated in regulating various biological processes, including gene expression, cellular development, and gastrointestinal functions. In this research, we explore the potential relationship between the EED gene and IBS, with a focus on the variation rs798256, documented in the ClinVar database. We examine how this gene variation might influence IBS development, highlighting the importance of genetic research in understanding IBS's pathophysiology. IBS symptoms include chronic abdominal pain, bloating, diarrhea, and constipation, with no clear underlying organic cause. The pathophysiology of IBS remains elusive, though several mechanisms are believed to contribute, such as gastrointestinal motility dysfunction, visceral hypersensitivity, and alterations in the gut microbiota. Genetic factors are thought to play a role, with multiple studies suggesting that IBS may have a hereditary component. The EED gene, which is located on chromosome 11, encodes a protein involved in the regulation of gene expression during development and differentiation. While its primary functions have been associated with embryonic development and neural differentiation, recent evidence suggests that EED may also play a role in gastrointestinal function. In this paper, we will focus on a particular variation within the EED gene, rs798256, and discuss its potential link to IBS. The EED gene encodes a protein that is part of the Polycomb Repressive Complex 2 (PRC2), a key regulator of gene silencing during cellular differentiation. This complex plays a crucial role in maintaining gene expression patterns, which are essential for proper development and differentiation of various cell types. The variation rs798256, as documented in the ClinVar database, may influence the gene's function and contribute to gastrointestinal dysfunction in IBS patients. The investigation of genetic variants like rs798256 could provide valuable insights into the complex interactions that contribute to IBS pathogenesis.
An Analysis of PDGFRA variants associated with Fibroids

Elaine Vanterpool and Nadja Hunt

Fibroids is a genetic disease where benign masses grow within the wall of the uterus. When the PDGFRA gene has a missense mutation or is not coding for the right processes, it can lead to the development of tumors that are nonmalignant but still have effect a patient's quality of life. Fibroids can affect women in many ways including a heavier and prolonged menstrual cycle, pelvic pain, and even infertility. This disease affects 20-30% of women ages 30-50 and black women are more likely to be affected. This study focuses on how fibroids is related to the PDGFRA gene. This gene is important because if effected, processes like cell growth and division may not function properly, causing the tumors. Using bioinformatic software allowed us to look and analyze various mutations and their implications. In doing so, there were mutations found on the PDGFRA gene that may have affect on the integrity of the protein.
An Analysis of PDGFRA variants associated with Fibroids

Elaine Vanterpool and Nadja Hunt

Originally 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.
The Genetic in Alzheimer

Elaine Vanterpool and Cristy Jimenez

APOE gene (apolipoprotein E gene) can be associated with pathogenic effects, particularly in the context of Alzheimer's disease and cardiovascular diseases, though it’s not inherently pathogenic in everyone. APOE comes in different alleles (variants), with APOE ε2, ε3, and ε4 being the most common. The protein encoded by this gene (Apolipoprotein) is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants.