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CTSC gene Correlation with Dental Disease Periodontitis

Elaine Vanterpool and Misiel Garcia

Periodontitis 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.
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). 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.
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.
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.
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

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.
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 M. Jimenez

Alzheimer's 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's disease.
The Association of ABCA3 Variants in Hypertension Pathogenesis

Elaine Vanterpool and Jea Joseph

Hypertension, commonly called high blood pressure, is a condition that affects the arteries in the body. The force of blood pushing against the artery walls being consistently too high leads to the overworking of the heart leading to hypertrophy of the heart over time. The purpose of this study is to identify and evaluate the pathogenicity of ABCA3 variants associated with hypertension.
Title: An Analysis of HMBS Variants Associated with Acute Intermittent Porphyria

Elaine Vanterpool and Jason Kahari

AIP, 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.
Genetic Insights into Glaucoma: The Impact of TKB1 Mutations on Glaucoma

Elaine Vanterpool and Kelli-An Kindell

Glaucoma is a chronic eye disease that can lead to blindness by damaging the optic nerve. It impairs the eye’s ability to drain fluid, resulting in increased eye pressure, which subsequently causes damage to the optic nerve in the back of the eye. The purpose of this study is to identify and evaluate the pathogenicity of TBK1 diversity associated with Glaucoma.
An Analysis of FTL variants associated with Cataracts Disease

Elaine Vanterpool and Joram Kisaka

Cataract is an eye disease that clouds the eye's natural lens, which is used to focus light on the retina. This eye disease causes symptoms such as blurry vision, double vision, sensitivity to light, and difficulty seeing at night. Cataracts are tied to the gene called Ferritin Light Chain (FLT), which is found in both prokaryotes and eukaryotes and plays a role in encoding the light subunits of the ferritin protein. The purpose of this research study was to identify the Ferritin Light Chain mutations that cause cataracts.
Implications of PIK3CA on Breast and Ovarian Cancer

Elaine Vanterpool and Kaylani Krigger

Breast 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.
Impact of SMAD 4 Gene to Juvenile Polyposis Syndrome

Elaine Vanterpool and Robert Lister

Juvenile polyposis syndrome (JPS) is a rare autosomal dominant disease in the gastrointestinal (GI) tract that grows benign, juvenile polyps. With the ability to become malignant in the future, juvenile polyps are a serious threat to children under 18 years old. Once these genes have mutated, this genetic disability will persist within the family for generations. The study aims to understand the impact of mutations within this disease and identify potential pathogenic missense mutations of the SMAD 4 gene found in JPS.
Analysis of Alzheimer's Associated ADAM10 Mutations

Elaine Vanterpool and Addie McIver

Alzheimer’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.
GATA1 Gene Variants Associated with Myeloproliferative Syndrome and its impact on Hematopoiesis

Elaine Vanterpool and Marliza Mendez del Orbe

Myeloproliferative syndrome (MPS) are rare blood cancers that originate from an abnormal mutation in a stem cell within the bone marrow, leading to excessive production of red blood cells, white blood cells, or platelets. These disorders affect approximately 20,000 individuals annually in the United States, with around 295,000 people currently living with the condition. The purpose of this study is to identify and assess the pathogenicity of GATA1 gene variants associated with MPS.
The Analysis of Variants of the ATM Gene in Breast Cancer

Elaine Vanterpool and Kyah Miller

Breast 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.
The Analysis of THRA Variants in Hypothyroidism

Elaine Vanterpool and Anaiah Mills

Hypothyroidism 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's purpose is to assess and determine the pathogenicity of THRA variants linked to hypothyroidism.
Analysis of REST gene Variants Associated with Gingival Fibromatosis

Elaine Vanterpool and Danielle Mills

Gingival 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.
Analysis of MAPT on Alzheimer’s Disease

Elaine Vanterpool and Marc Morgan Jr.

Alzheimer’s is the 7 th most common cause for death in humans and unfortunately has no cure. Coincidentally the gene MAPT (microtubule-associated protein tau) increases chances of obtaining Alzheimer's. The purpose of this study is to discover the mutation that resides within this gene. A website database called Simple Clinvar was used to generate information concerning Alzheimer’s disease and the different genetic variants associated with the disease. The SIFT algorithm was used to show whether the changes in amino acid sequences of the MAPT gene can affect protein function. PolyPhen was another prediction algorithm used to predict the influence that amino acid substitutions have on the expression and function of proteins. The MAPT gene (Microtubule Associated Protein Tau) provides instructions for making a protein called tau, which plays a crucial role in stabilizing microtubules structures that help maintain cell shape and enable intracellular transport, especially in neurons. The MAPT gene belongs to the MAP superfamily, which includes proteins that regulate microtubule dynamics, stability, and interactions within the cell, particularly in neurons. The MAPT gene regulates intracellular transport, specifically transport in neurons. It primarily influences the movement of cellular cargo along microtubules, which act as highways for transporting proteins, organelles. The conserved domains occur on the 1- 449 interval. The Arg5Leu mutation was predicted to be probably damaging with a PolyPhen score of 0.663/1.0. The Arg5His mutation was predicted to be possibly damaging, with a PolyPhen score of 0.944/1.0. The MAPT gene is associated with several neurodegenerative diseases, collectively known as tauopathies, where abnormal tau protein aggregation leads to neuronal dysfunction and death. The expression of these mutations has been linked to a higher risk of developing Alzheimer’s disease.
The Analysis of the COMT gene contribution to Schizophrenia

Elaine Vanterpool and Caelyn Mukorombindo

Schizophrenia is a disease that is a result of an imbalance of the neurotransmitter dopamine in the brain. Schizophrenia is a polygenic disorder associated with many genes. The cause of schizophrenia is still unknown, but a variety of genes have been linked to the progression of the disease. These neurotransmitters are chemicals that allow the brain to receive and send messages between neurons. The purpose of this study is to be able to identify and analyze the COMT variants pathogenicity potential and the possible association with the schizophrenia phenotype.
An Analysis of PON1 Variants Associated with Cardiovascular Disease (CVD)

Elaine Vanterpool and Adaiah Murray

Cardiovascular 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.
Analysis of the CAPN10 Gene In Women With Polycystic Ovary Syndrome

Elaine Vanterpool and Gabrielle Murray

Polycystic Ovary Syndrome (PCOS) is a heterogeneous condition where a female has hormonal imbalances. A woman with PCOS ovaries produces abnormal high levels of androgens. Usually affected females have irregular menstrual cycles and further health issues which include diabetes type 2, ovarian cysts, and infertility. This study aims to investigate the association between mutations in the calpain10 gene and PCOS.
Analysis of the ACTB Gene Pathogenicity and Its Impact on Dystonia Pathogenesis

Elaine Vanterpool and Abygail Newton

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. The precise cause of this disorder remains unclear, but it can be hereditary and affects women at twice the rate of men. (Mayo Clinic) This study will examine the pathogenicity of the ACTB gene and its impact on individuals with dystonia.