Biology Commons^™

An Analysis Of Dguok Variants Associated With Mitochondrial Dna Depletion Syndrome, Elaine Vanterpool, Ethan Harris

Student Posters

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 …

My09b And Ctla4 Effects On Celiac Disease, Elaine Vanterpool, Blake Woode

Student Posters

Celiac 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. In this study, we will be using SIFT, simple clinvar, and SIFT. First, we will use simple clinvar. Using this tool we find the gene that is being affected which is gene MY09B. After using SIFT to determine variant pathogenicity and the potential to impact protein function we found that the …

Investigating Alk, Phox2b, And Brca2 Gene In Relation To Neuroblastoma, Elaine Vanterpool, Joshua Henry

Student Posters

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 …

Analysis Of Sim1 Variants In Diabetes, Elaine Vanterpool, Shayne Gordon

Student Posters

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 …

Impact Of Smad 4 Gene To Juvenile Polyposis Syndrome, Elaine Vanterpool, Robert Lister

Student Posters

The SMAD family job is to aid in signal transduction of transforming growth factor �� (TGF ��), which is used as a growth hormone that aids in hyperpermeability of blood vessels, epithelial cell production, and cell differentiation. For the specific SMAD4 protein it has been to be a tumor suppressor gene that regulates the production of cells so that the abnormal production does not occur. However, with a mutated SMAD gene, these functions could be altered and cause drastic damage to the body. Learning how the SMAD 4 gene can cause diseases such as juvenile polyposis syndrome (JPS) and gastric …

An Analysis Of Androgen Receptor (Ar) Variants In Breast Cancer, Elaine Vanterpool

Student Posters

The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract from the normal 9-34 repeats to the pathogenic 38-62 repeats …

Hbb Gene And Sickle Cell Disease, Elaine Vanterpool, Adia Burley

Student Posters

Around 100,000 people in the US are affected by sickle cell disease. There are 8 million people worldwide who are affected by Sickle cell disease. Regarding African ancestry or those who identify as black, 9 of 10 people would have this disease. Black babies can be born with this trait, and the ratio is 1 in every 13, and around 1 in every 365 babies are born with the disease. (NHLBI) •Hemoglobin, a specific protein in red blood cells, affects sickle cell disease. Our red blood cells are important for carrying oxygen throughout our body. When we breathe, the hemoglobin …

An Analysis Of Diabetes Associated With Appl1 Variants D94n And R46w, Elaine Vanterpool, Gaielle Price

Student Posters

Diabetes is a chronic condition characterized by high blood sugar levels resulting from the body's inability to produce or effectively use insulin. Type 2 diabetes, the most common form, is often linked to insulin resistance, where cells do not respond properly to insulin. The APPL1 gene encodes a multifunctional adaptor protein that plays a key role in insulin and adiponectin signaling, both of which are crucial for glucose metabolism. APPL1 enhances insulin stimulated glucose uptake by activating Akt, a major component in the insulin signaling pathway. Deficiencies in APPL1 have been linked to impaired insulin signaling, contributing to insulin resistance …

Analysis Of The Capn10 Gene In Women With Polycystic Ovary Syndrome, Elaine Vanterpool, Gabrielle Murray

Student Posters

Polycystic ovary syndrome (PCOS) is a hormonal imbalance disorder unique to females that primarily affects the ovaries. It is common in women of reproductive age and characterized by irregular menstrual cycles and further health issues include diabetes type 2, ovarian cysts and infertility. Many women with PCOS have insulin resistance. CAPN10 is the first diabetes gene to be identified through a genome scan. It was also found to be associated with other Cardiometabolic disease and PCOS. CAPN10 gene also known as the calpain-10 is a calcium dependent cysteine protease. This means its activity is regulated by calcium ions and it …

The Duality Of The Bard1 Gene, Elaine Vanterpool, Khadra Burden

Student Posters

Cancer causes cells to constantly grow and wreak havoc on the body. Cancer is the 2nd leading cause of death in the world and affects over 2 million individuals in the United States. One of the most common cancers in the US is breast cancer. Breast cancer is one of the most diagnosed cancers in women in the US. Breast cancer occurs when the breast cells overproduce, and tumors develop and eventually spread to the rest of the body. There are several factors that increase an individual’s risk of breast cancer such as age, sex, genetics, obesity, family history of …

Unveiling Genetic Links To Hypertension: Smad4 Mutations And Their Predicted Impact, Elaine Vanterpool, Cailey Wilson

Student Posters

Hypertension, commonly referred to as high blood pressure, is a significant public health concern due to its role in increasing the risk of life-threatening conditions such as heart attack and stroke. Often called the "silent killer," hypertension typically presents without symptoms, leading many individuals to remain unaware of their condition until complications arise. While lifestyle factors play a crucial role in hypertension development, genetic factors have also been increasingly recognized as contributors to disease susceptibility. This study focuses on the genetic basis of hypertension by investigating the SMAD4 gene, which encodes a protein involved in intracellular signaling pathways. Mutations in …

Analysis Of The Actb Gene Pathogenicity And Its Impact On Dystonia Pathogenesis Abygail Newton And Elaine Vanterpool, Phd, Elaine Vanterpool, Abygail Newton

Student Posters

Dystonia is a neurological movement disorder characterized by involuntary spasms or contractions of the muscles in one or more areas of the body, which may or may not be accompanied by pain. Over 250,000 people in the United States have been diagnosed with dystonia, making it one of the three most common neurological motor diseases in the country. Dystonia does not discriminate; it can affect anyone, regardless of race or age. However, women are diagnosed with this disease at twice the rate of men. The precise cause of dystonia remains unclear, but it can be hereditary. Fortunately, we have identified …

An Analysis Of Sim1 Variants Associated With Diabetes, Elaine Vanterpool, Jasmine Tomlin

Student Posters

SIM1, known as Drosophila single-minded 1, Is a homologous gene. It resides within chromosome 21 and was originally detected in fetal kidneys and fetal diseases. It is a transcription factor that is involved in the development of the paraventricular nucleus in the hypothalamus. These are two clusters of neurons that play a vital role in many functions such as growth and metabolism. This includes the control of food intake and regulation of energy homeostasis. The Haploinsufficiency of SIM1 affects the expression of the gene and causes early-onset obesity due to its poor regulation. Due to its role in drosophila genetics …

An Analysis Of Vhl And Its Relation To Leukemia, Elaine Vanterpool, Marquise Develde

Student Posters

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 …

An Analysis Of Sco2 Variants Associated With Dilated Cardiomyopathy, Elaine Vanterpool, Mitspah Eshette

Student Posters

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 …

An Analysis Of Pdgfra Variants Associated With Fibroids, Elaine Vanterpool, Nadja Hunt

Student Posters

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 …

Analysis Of Cd36 Variants Associated With Heart Disease, Elaine Vanterpool, Lemanisha Adams

Student Posters

Cardiovascular Disease (CVD) affects an estimated 47-54% of Black adults in America. CVD is characterized when coronary arteries struggle to supply the heart with enough blood, oxygen, and nutrients. CVD refers to a various disorders affecting the heart and blood vessels, which includes disease like stroke, coronary artery disease, and heart failure. Risk factors can include diabetes, high cholesterol, and hypertension. Some symptoms include chest pain, shortness of breath, pain in the neck, numbness, weakness, or coldness in the arms or legs, dizziness or fainting, and fatigue or exhaustion. Unfortunately, Heart disease remains one of the leading causes of mortality …

Ctsc Gene Correlation With Dental Disease Periodontitis, Elaine Vanterpool, Misiel Garcia

Student Posters

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 …

Basking In Abundance: Distribution And Abundance Of Alabama Map Turtles (Graptemys Pulchra) In The Upper Coosa River, Abigail Wilkins

Theses

The Alabama Map Turtle (Graptemys pulchra) is one of the least studied species of turtle in the United States. Little is known about the species distribution and abundance within the northeastern portion of its range. The aim of this study is to determine the distribution of G. pulchra in the Upper Coosa River drainage as well as estimate population sizes for G. pulchra at 6 sites accessible in the Upper Coosa River Drainage. I used a variety of methods (e.g., rapid assessment surveys, trapping, mark-resight population estimates) to determine the presence and abundance of the species in the Upper …

Combination Of Hdac And Fyn Inhibitors In Synovial Sarcoma, Kyra Parker

Theses

The SS18-SSX fusion protein is an oncogenic driver in synovial sarcoma. At the molecular level, SS18-SSX functions as both an activator and a repressor to coordinate transcription of different genes responsible for tumorigenesis. Here, we identify the proto-oncogene FYN as a new SS18-SSX target gene and examine its relation to synovial sarcoma therapy. FYN is a tyrosine kinase that promotes cancer growth, metastasis and therapeutic resistance, but SS18-SSX appears to negatively regulate FYN expression in synovial sarcoma cells. Using both genetic and histone deacetylase inhibitor (HDACi)-based pharmacologic approaches, we show that suppression of SS18-SSX leads to FYN reactivation. In support …

Life Line Spring 2025, Otterbein Biology And Earth Science Department

Life Line - The Biology Department Newsletter

In this issue:

Greetings and Farewell!; COSI 2024; Ketchup, Culture, and an Unforgettable Conference; Alumna Earns PhD; Tortoises, Butterflies, and Cockroaches, Oh My!; Licking River Roundup 2024; Aquarium Students Explore Coral Restoration in Fiji; The Galapagos Islands: Geology, Ecology, Conservation, and Culture; Dr. Svitana Presents on Otterbein Lake Well Field; Cell Bio Pilots Unique Approach to Learning; Hoggarth to Retire, June 2025; AED is BACK on Campus!; The Greenhouse Gets a Lifeline; Acoustic Rabies Identification (ARID): A Sound-Based Approach to Rabies Testing

A Bioinformatic Analysis Of Foxo3 And Tgfb3 Variants: Possible Pathways To Survivin Expression, Elaine Vanterpool, Jordon Vanterpool

Student Posters

Worldwide, cancer is a major medical concern. Cancer may spread to your bones or organs through the lymphatic or circulatory systems. To have the best chance of recovery, it is crucial to get examined for cancer early. Numerous forms of cancer exist including breast, bone, brain, prostate, colon cancer, and etc. Survivin is a small inhibitor for apoptosis. Scientist consistently identify survivin being expressed in high tumor grade cancers by using molecular profiling analysis. Survivin has the potential to avail diagnosis. The goal of this study is to identify and investigate potential variants that are associated with the increased expression …

Hydin Gene Variants: Implications In Primary Ciliary Dyskinesia And Other Diseases, Elaine Vanterpool, Sharie Angus

Student Posters

The HYDIN gene, also known as CILD5, HYDIN1, HYDIN2, and PPP1R31, encodes a protein that plays a role in cilia motility. Mutations in HYDIN are associated with autosomal recessive primary ciliary dyskinesia-5 (PCD5), a disorder characterized by cerebrospinal fluid accumulation in the brain’s ventricles. A duplicate copy of this gene has also been identified on chromosome 1 in humans. Research indicates that HYDIN loss of-function mutations contribute to asthenoteratozoospermia, leading to structural defects in sperm flagella, disassembly of the acrosome and neck, and subsequent male infertility. Intracytoplasmic sperm injection (ICSI) has been proposed as a potential treatment for sperm immobility …

Analysis Of Abca3 Variants Associated With Hypertension, Elaine Vanterpool, Ashlee Simpson

Student Posters

Hypertension is abnormally high blood pressure in the arteries, the blood vessels that carry blood from the heart to the rest of the body. Many individuals do not know they have the condition. However, it is a major risk factor for a multitude of health problems. The heart and arteries having to work harder than normal thickens the muscles of the heart and arteries and hardens and damages artery walls. Flow of blood and oxygen is also reduced which directly results in heart disease. This study focuses on how the ABCA3 gene is associated with hypertension. The membrane-associated protein encoded …

Mutations In The Mmp20 Gene In Association With Amelogenesis Imperfecta, Elaine Vanterpool, Alicia Myrie

Student Posters

Amelogenesis Imperfecta or AI is a group of disorders that affect enamel formation and result in enamel abnormalities. One of the genes associated with these disorders is the MMP20 gene, which has instructions encoding for the protein enamelysin. Enamelysin, a predominant amelogenin-processing enzyme coded by MMP20 forms enamel by cleaving other proteins involved in its formation, making them easier to remove once they are no longer needed. These include: Amelogenin, Ameloblastin, and enamelin. Amelogenin makes up most of the enamel's extracellular matrix. Amelobastin deals with adhesion and cell signaling, along with aiding in structure. Enamelin is the largest protein in …

Chek2 In Cancer Suppression: Investigating Genetic Variants And Their Impact, Elaine Vanterpool, Nicevarlyn Philippe

Student Posters

Cancer develops when cells grow uncontrollably, often due to mutations in genes that maintain genome stability. One such gene is CHEK2 (Checkpoint Kinase 2), a tumor suppressor activated in response to DNA damage. CHEK2 halts the cell cycle to allow for DNA repair, stabilizes TP53, and phosphorylates BRCA1 , all of which help prevent the spread of mutations. CHEK2 belongs to the CDS1 family of serine/threonine kinases and contains an FHA domain that facilitates interaction with other DNA damage response proteins. Upon activation, CHEK2 inhibits CDC25C phosphatase, preventing premature mitosis, and contributes to G1 arrest through p53 stabilization. Itsrole in …

Eed Gene Variants And Irritable Bowel Syndrome: A Genetic Approach To Understanding Ibs, Elaine Vanterpool, Ted Howard

Student Posters

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 …

An Analysis Of Pon1 Variants Associated With Cardiovascular Disease (Cvd), Elaine Vanterpool, Adaiah Murray

Student Posters

The PON1 gene encodes for paraoxonase 1, an enzyme that plays a crucial role in the breakdown of organophosphates and the prevention of oxidative damage to lipids, particularly those in low-density lipoprotein (LDL). PON1 is primarily associated with high-density lipoprotein (HDL), often called "good cholesterol," and is involved in antioxidant defense mechanisms. Cardiovascular Disease (CVD): The relationship between PON1 and cardiovascular disease has been a subject of considerable research. Variations in the PON1 gene and its product, paraoxonase 1, are important in modulating the risk of cardiovascular disease. The gene’s polymorphisms and their impact on enzyme activity may influence individual …

The Analysis Of Thra Variants In Hypothyroidism, Elaine Vanterpool, Anaiah Mills

Student Posters

Hypothyroidism is a chronic disease that lacks the production of thyroid hormones. If this disease is not treated with the proper care, it can lead to some serious health effects, or even become fatal. In hypothyroidism levels of thyroid hormones are low. The thyroid gland is a very pivotal part of the endocrine system located at the front of The protein encoded by this gene is the nuclear hormone receptor triiodothyronine. The consequences of untreated or inadequately treated hypothyroidism include infertility, cardiovascular disease, and neurological and musculoskeletal symptoms. Environmental iodine deficiency is the most common cause of thyroid disorders, including …

The Analysis Of The Comt Gene Contribution To Schizophrenia, Elaine Vanterpool, Caelyn Mukorombindo

Student Posters

The COMT gene, also known as the catechol-O-methyltransferase gene, plays a role in breaking down the neurotransmitters in the brain, like dopamine. Dopamine plays a role in behavior and mood; as a result, the COMT gene can influence traits like mental illnesses and disorders. COMT has a variation called Val158Met, where a change in the DNA sequence affects the efficiency of dopamine breakdown. Those who have the variant have lower COMT activity, which results in dopamine levels being high in the brain, which affects their ability to deal with stress and to show signs of aggressive behavior. This gene has …