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The Association of ABCA3 Variants in Hypertension Pathogenesis

Elaine Vanterpool and Jea Joseph

Hypertension affects around 48.1% of people living in the United States. This number of adults with hypertension between the ages of 30-70 has increased from 650 million to 1.28 billion in the last 30 years. Hypertension is characterized as a condition that affects the arteries of the blood. High blood pressure and high cholesterol have a huge correlation to each other. When the body cannot rid cholesterol from the blood stream, it can deposit along artery walls and clog them, making blood flow harder and increases blood pressure. ABCA3 is a member of the ATP binding cassette family of proteins that mediate the translocation of a wide diversity of substrates, like lipids, across cellular membranes. The lipid transporter is a highly conserved multi-membrane spanning protein that plays a critical role in the regulation of pulmonary surfactant homeostasis. ABCA3 proteins can function to protect alveolar epithelial cells against free cholesterol by reducing its cellular level. The variants found from Simple Clinvar are missense mutations. These mutations interfere with the protective properties of the protein. ABCA3 plays a significant role in the regulation of cellular cholesterol levels which is why it's vital to understand the gene as it has clinical significance to Hypertension.
Title: An Analysis of HMBS Variants Associated with Acute Intermittent Porphyria

Elaine Vanterpool and Jason Kahari

HMBS, also known as hydroxymethylbilane synthase, is a gene that is responsible for providing instructions for making the enzyme named hydroxymethylbilane synthase. This enzyme is involved in the creation of a molecule called heme. Heme plays an important part in all of the body’s vital organs. It is important to all organs however, it is most prevalent in the blood, bone marrow, and liver. Heme is essential in making iron-containing proteins called hemeproteins. To produce heme, an eight-step process must occur that requires 8 different enzymes. “Hydroxymethylbilane synthase is responsible for the third step in this process, which combines four molecules of porphobilinogen (the product of the second step) to form a compound called hydroxymethylbilane. In subsequent steps, five other enzymes produce and modify compounds that ultimately lead to heme” When looking at the health conditions related to the genetic changes of heme, it is important to highlight that there have been more than 300 mutations in the HMBS gene. With these mutations, people have been identified with a mutation called porphyria, also known as acute intermittent porphyria. Some of these mutations change single protein building blocks in hydroxymethylbilane synthase. Other mutations add or delete genetic material within the HMBS gene, which can alter the structure and function of the enzyme. Mutations in the HMBS gene reduce the activity of hydroxymethylbilane synthase, which allows compounds called porphyrins to build up in the liver and other organs. These compounds are formed during the normal process of heme production but reduced activity of HMBS. This build-up, in addition to other nongenetic, unhealthy habits, leads to attacks of severe abdominal pain and other symptoms in people with acute intermittent porphyria.
Genetic Insights into Glaucoma: The Impact of TKB1 Mutations on Glaucoma

Elaine Vanterpool and Kelli-An Kindell

Glaucoma is a neurodegenerative eye disorder that can cause vision loss or permanent blindness due to damage in the optic nerve. Research has helped identify various genetic variants associated with this disease, including TBK1 (TANK-binding kinase 1). TBK1encodes for an enzyme serine/threonine which plays a role in innate immunity antiviral responses. This enzyme helps the immune system fight off infections by turning on specific signals in the body like IRF3/7 and NF-kB which regulate cytokine production and inflammatory response. Beyond immunity TBK1 is involved in crucial cellular processes including autophagy, mitochondrial energy production and cellular proliferation. TBK1 was linked to glaucoma when duplications were discovered, leading to an excess of genetic material that may contribute to disease progression. Mutations in TBK1are thought to impact the optic nerve by increasing autophagy which can trigger retinal ganglion cell death leading to glaucoma. Specific mechanisms in which TBK1 affects intraocular pressure have not fully been understood in the role it plays in glaucoma. However, studies suggest TBK1 plays a role in regulating apoptosis in retinal ganglion cells, but further research is needed to clarify its full impact on glaucoma. TBK1 is not only linked in Glaucoma it has been associated with other diseases including Encephalopathy, Acute, Infection-Induced, Frontotemporal Dementia, Amyotrophic Lateral Sclerosis 4, and carcer. In cancer TBK1 plays a role in triggering immune responses. TBK1 has been associated with the spread of cancer after radiation therapy and damages proteins that help cancer cells adapt and migrate. Similarly, in glaucoma, TBK1 may drive disease progression through its effects on autophagy. In addition, TBK1 research is important for understanding and treating glaucoma as an incurable disease. By identifying various factors of specific genes linked to this disease, we can explore ways to prevent its inheritance. Understanding how glaucoma works can help find cures or help slow progression to prevent blindness in individuals. Furthermore, studying TBK1 can help reveal its role in other diseases by contributing to the development of cures for those conditions as well. In conclusion, further research can help develop new treatments, prevent individuals from inheriting this disease, develop methods and cures to prevent this disease from being mutated in the body.
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

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 adenocarcinoma with enteroblastic differentiation (GAED) would allow others to understand the effect of the gene. This can allow people to understand the impact of the SMAD 4 gene. JPS has been seen to cause issues within the gastrointestinal tract with the possibility of malignancy. When analyzing a pedigree, it was discovered that when the SMAD 4 gene was altered or replaced, the splicing function of the gene could not continue its function. With genetic testing the further analysis, it was determined that the gene was an autosomal dominant gene that will likely be seen in future generations. This study identified SMAD4 at c.424+5G>A to contribute to the pathogenicity of the gene and has been seen to cause several problems down the line.
Analysis of Alzheimer's Associated ADAM10 Mutations

Elaine Vanterpool and Addie McIver

Alzheimer’s Disease (AD) is characterized by a loss of short-term memory and deterioration of the brain through a decrease in neuron connection and damage to the cerebral cortex. The main symptoms of AD are confusion and a loss of memory, reasoning, and social behavior, partially believed to be caused by neuritic plaque accumulation. This debilitating disease is associated with 28 genes and 515 variants. One of the rarer genes, ADAM10, is a cell surface protein/ protease that is part of the alpha secretase family, commonly associated with AD. These genes, present in all mammals, code for others in the ADAM family and cleave proteins like TNF-alpha and E-cadherins, which are important in stimulating cell growth and processing proteins. When these are unnaturally cleaved or regulated, they can promote cancers and beta amyloid accumulation. This accumulation often occurs when the amyloid precursor protein (APP) is left unprocessed by BACE1 or ADAM10 and is converted into amyloid plaques, causing buildup in nerve cells. ADAM10 variants also play a role in cortical basal syndrome, or shrinking of the brain, and reticulate acropigmentation of Kitamura, and are expressed in the adrenal glands, heart, intestine, kidney, lung, and stomach. The goal of this study is to investigate the pathogenicity of ADAM10 variants and understand how these mutations might contribute to AD and other diseases.
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 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 hypothyroidism, worldwide, while in areas of iodine sufficiency, the most common cause of primary hypothyroidism is autoimmune thyroiditis (Hashimoto’s disease). It is one of the several receptors for thyroid hormone and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having a certain extent of redundancy, may mediate different thyroid hormone functions.
Analysis of REST gene Variants Associated with Gingival Fibromatosis

Elaine Vanterpool and Daniellw Mills

Gingival fibromatosis is a genetic disorder that affects cell proliferation of the gum tissue leading to excessive, benign growth of tissue in the mouth (1) . Like all genetic disorders this disease results from mutations in specific gene sequences responsible for proper protein expression (2). Geneticists are increasingly interested in studying the genes responsible for various diseases and the mutations that cause them (2). While significant study has been devoted to Gingival fibromatosis and the mutations that lead to it , there remains research to be done in alternate effects of various mutations in the genes responsible for the disease. One such gene is the REST 1 gene associated with neural development (4). Mutations in the gene have been associated with several diseases including Huntington’s, heart disease, and cancers (3). A variety of missense mutations can also occur within this gene and potentially lead to a range of effects on protein expression. Such mutations can be identified and studied for their potential pathogenicity, thus contributing to what is known about the REST 1 gene and its various mutation.
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

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 also been linked to schizophrenia. •The COMT gene provides instructions for making the enzyme catechol-O methyltransferase, mainly made in the brain cells. There are two versions of the enzyme. The longer version is called the membrane-bound catechol-O methyltransferase, and the shorter version is called soluble catechol-O methyltransferase. This shorter version is produced in all the other body parts and helps to maintain certain hormones. The COMT enzyme breaks down chemicals like neurotransmitters, which are mainly responsible for sending signals between the nerve cells in the brain. The COMT is 27.22 kb in length and is found on chromosome 22. It’s extremely important in the prefrontal cortex. This part of the brain is known to control planning, thinking, emotion, and short-term memory. For the prefrontal cortex to work efficiently, it must have the correct number of neurotransmitters like dopamine. The enzyme helps keep these chemicals at the right levels in this part of the brain. According to the National Library of Medicine,” Studies of COMT Val158Met suggest that the neural circuitry subserving inhibitory control may be modulated by this functional polymorphism, altering cortical dopamine availability, thus giving rise to heritable differences in behaviors.” •The COMT gene also plays a role in aggressive behavior in humans. Aggression is an important part of survival in humans; when it becomes excessive, it can lead to negative outcomes. According to the National Library of Medicine, aggression has a strong hereditary component with up to 40-50% risk of being genetic. Craig and Halton conducted studies and found that various genes, including the COMT gene, have been linked to aggression. There have also been studies that look at aggression and the COMT through the lens of schizophrenia. The study showed that the” low-activity MetMet allele had a higher risk for these dangerous behaviors than the high-activity ValVal homozygotes.” The COMT, among other environmental factors plays a role in aggressive behavior and can be linked to other diseases but research is most definitely still ongoing.
An Analysis of PON1 Variants Associated with Cardiovascular Disease (CVD)

Elaine Vanterpool and Adaiah Murray

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 susceptibility to oxidative damage and atherosclerosis, making PON1 a key player in cardiovascular health. Cardiovascular Disease (CVD) includes conditions affecting the heart and blood vessels and is a leading cause of death globally. Risk factors such as high blood pressure, diabetes, and high cholesterol contribute to CVD, with genetic factors also playing a significant role. One gene implicated in CVD is PON1, which encodes paraoxonase 1, an enzyme that breaks down lipid peroxides and prevents oxidative stress in the cardiovascular system The ClinVar database was used to identify PON1 as a gene linked to CVD and analyze its variants. Computational tools like PolyPhen-2 and SIFT assessed the pathogenicity of these variants.
Analysis of the CAPN10 Gene In Women With Polycystic Ovary Syndrome

Elaine Vanterpool and Gabrielle Murray

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 functions as an enzyme. It is present on chromosome 2q37.3 and has 12 exons. It encodes a protein that plays a role in insulin sensitivity and glucose homeostasis by regulating actin dynamics within cells. Thus, it has great importance in the beta-cells. CAPN10 has been found to facilitate GLUT4 translocation and acts in reorganization of the cytoskeleton. The latter is necessary for proper insulin granule trafficking and exocytosis. Polymorphism in CAPN10 leads to PCOS because insulin resistance is associated with PCOS. Through its function as a cysteine protease, CAPN10 plays a role in regulating insulin sensitivity. Mutations can cause CAPN10 to not function correctly, leading to decrease in insulin sensitivity and resulting in insulin resistance. A proposed mechanism for Calpain-10 gene activation is when glucose enters the cell, it increases the glucose absorption and metabolism raises ATP levels. This in turn causes inactivation of ATP-sensitive potassium channels, membrane depolarization, and calcium influx and affects insulin secretion. Subdomain Ⅲ and domains Ⅱa and Ⅱb are the conserved domains affected by the four variants of CAPN10, single nucleotide missense mutations, Arg555Cys, Ala156Thr, Ser613Asn, and Pro320Leu. Subdomain Ⅲ and domains Ⅱa and Ⅱb function in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction. As well as calcium- induced activation and electrostatic interactions with subdomain II. Mutations in these areas are likely to have a significant impact on catalytic activity.
Mutations in the MMP20 Gene in Association with Amelogenesis Imperfecta

Elaine Vanterpool and Alicia Myrie

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 the enamel matrix. Other diseases that are associated with this gene include Hypomaturation Type and lia2. The MMP20 gene has multiple names including enamel metalloproteinase, matrix metallopeptidase 20, MMP-20, and MMP20_HUMAN MMP20 or matrix metallopeptidase 20. The metalloproteinase or MMP family is a kind of metallopeptidase involved in the remodeling of the extracellular matrix. The proteins are secreted as inactive proproteins, activated when they are cleaved by extracellular proteases. MMP20 differs from MMPs because it lacks many structural features that are prevalent in other subfamilies. The domain structure of MMP20 includes a signal peptide, a propeptide, a catalytic domain, and a hinge region. It was found that one functional MMP20 gene was sufficient enough for normal enamel development. The National Library of Medicine details the open reading frame of MMP20 as: 5′-CTA CTG TGA GGG GAT GAA GG-3′ (SS) and 5′-TTT CTA TTT AGC AAC CAA TCC-3′ (AS). The mutant frame is detailed as 5′-GTT TAC CGT TGC TGC TCA AGA ATT TGG CCA TGC C-3′ [SS] and 5′-GGC TAG GCC AAA TTC TTG AGC AGC AAC GGT AAA C-3′ [AS]. (Ozdemir et al.) It has 7 exons and is located in a cluster of at least 7 other MMP gene
Analysis of the ACTB Gene Pathogenicity and Its Impact on Dystonia Pathogenesis Abygail Newton and Elaine Vanterpool, PhD

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. 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 the part of the brain affected by dystonia. This condition arises due to abnormal functioning of the basal ganglia, a structure located deep within the forebrain that plays a crucial role in coordinating movement. Unfortunately, the exact cause of dystonia remains unknown. The ACTB gene is responsible for producing a protein called beta-actin, which is a key component of the cell's cytoskeleton. The ACTB gene is mainly found in the stomach, which is significant because if a person digests food regularly, the stomach will conduct peristalsis consistently throughout the day. It is also found in other organs that conduct movement on a daily basis, like the lungs, intestines, and heart. Since this gene is essential for maintaining cell shape, migration, and motility, mutations in it can impact the body’s movement. The ACTB gene is directly linked to Braraitser Winter syndrome, a developmental disorder that affects the brain, eyes, and other facial features. However, further analysis is needed to better understand the relationship between mutations in the ACTB gene and dystonia.
The Influence of MEF2C Variants on Autism Development

Elaine Vanterpool and Maya O'Reilly

MEF2C (Myocyte Enhancer Factor 2C) is a gene that is important for brain development and function, especially in neurons that help transmit signals across the brain. It is crucial for learning, memory, and movement. Mutations in the MEF2C gene can lead to MEF2C-related disorder, a neurodevelopmental condition that causes developmental delays, intellectual disabilities, low muscle tone, seizures, and behaviors often associated with autism. People with this disorder may also experience speech difficulties, sleep problems, vision issues, and heart complications. About half of those affected by MEF2C related disorder may not be able to walk independently due to motor skill issues. This disorder is usually caused by a random mutation in the MEF2C gene, which affects brain development and neuron function. This mutation has also been linked to other mental health conditions, including autism, schizophrenia, and other developmental disorders. Research shows that MEF2C regulates genes that are important for neuron growth, energy production, and overall brain function, which makes it vital for cognitive abilities and mental health. Diagnosis of MEF2C related disorder is typically confirmed through genetic testing, helping healthcare professionals identify the mutation in the MEF2C gene. While there is no cure, treatment mainly focuses on managing symptoms, which may include physical therapy, speech therapy, and seizure management. Although MEF2C related disorder is generally caused by a random genetic mutation, there are rare cases where it can be passed down to the next generation. In these cases, the likelihood of transmission to offspring is 50%. Ongoing research continues to investigate MEF2C's role in brain development and its link to various neurological and psychiatric conditions. This research aims to discover new insights that could lead to better treatments and improve the lives of those affected by MEF2C-related disorder.
The Influence of MEF2C Variants on Autism Development

Elaine Vanterpool and Maya O’Reilly

Autism Spectrum Disorder (ASD) is a condition that affects how people communicate, interact, and behave, with about 1 in 54 children in the U.S. being diagnosed. This study looks at the MEF2C gene and its possible link to ASD.
CHEK2 in Cancer Suppression: Investigating Genetic Variants and Their Impact

Elaine Vanterpool and Nicevarlyn Philippe

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 homologous recombination via BRCA1 further supports genomic integrity. Mutations in CHEK2 can impair these functions, allowing cells to bypass checkpoints and accumulate further damage, increasing cancer risk. Such mutations are linked to Li-Fraumeni syndrome and higher risks of breast, brain, thyroid cancers, and sarcomas. This study examines two CHEK2 missense mutations, Ser194Cys and Ala190Val, to evaluate their potential impact on protein function and cancer susceptibility. Insights from this research may aid genetic counseling and risk assessment strategies.
Analysis of TERT Gene associated with Melanoma

Elaine Vanterpool and Laila Prentice

Melanoma is a type of skin cancer that arises when melanocytes, the pigment-producing cells in the skin, begin to proliferate uncontrollably. It can develop from a preexisting mole or previously unblemished skin. Melanoma is considered one of the most aggressive forms of skin cancer, known for its rapid proliferation and resistance to treatment. This malignancy poses a significant health risk to the elderly, who may be more susceptible due to cumulative sun exposure and age-related immune system decline. There are several subtypes of melanoma, including superficial spreading melanoma, nodular melanoma, lentigo maligna melanoma, and acral melanoma. Its development is strongly associated with exposure to ultraviolet (UV) radiation, either from natural sunlight or artificial sources such as tanning beds. Among the numerous genes associated with melanoma, TERT (Telomerase Reverse Transcriptase) is of particular interest in this study. TERT is a ribonucleoprotein enzyme responsible for synthesizing telomeric DNA. The TERT gene encodes the catalytic subunit of telomerase, an enzyme that maintains chromosome stability by adding repetitive DNA sequences to the ends of chromosomes, preventing their progressive shortening and potential instability. TERT is composed of three key domains: ps-ssRNAv-RdRp, Telomerase-RBD, and PksD, and it plays a role in various organs, including the heart, intestine, kidney, stomach, and lungs. TERT promoter mutations are among the most frequently observed point mutations in human cancers, including melanoma, glioblastoma, and bladder cancer. These mutations often lead to telomerase reactivation, enabling cancer cells to bypass senescence and continue proliferating indefinitely. By promoting chromosomal stability, TERT plays a pivotal role in tumor development and progression. Given its critical function in cellular immortality, investigating TERT mutations in melanoma could provide valuable insights into tumor biology and potential therapeutic targets.
An Analysis of Diabetes Associated with APPL1 Variants D94N and R46W

Elaine Vanterpool and Gaielle Price

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 and metabolic dysfunction, key features of type 2 diabetes. APPL1 also influences adiponectin signaling, which enhances insulin sensitivity. Reduced APPL1 expression can disrupt this process, further exacerbating metabolic issues like diabetes. Beyond diabetes, APPL1 is implicated in other conditions such as renal clear cell carcinoma (KIRC), polycystic ovary syndrome (PCOS), and gastric carcinoma. Its reduced expression in KIRC is associated with higher metastasis rates, while in PCOS, APPL1's role in insulin and adiponectin signaling affects ovarian function and metabolic balance. In gastric carcinoma, APPL1 overexpression has been linked to enhanced tumor cell migration through Akt2 phosphorylation. Given its broad role in metabolic regulation, insulin resistance, and disease progression, APPL1 shows promise as a target for therapeutic interventions in diabetes and related disorders.
An Analysis of Diabetes Associated with APPL1 Variants D94N and R46W

Elaine Vanterpool and Gaielle Price

Diabetes is a long-term metabolic illness with high blood glucose (blood sugar) levels. Over time, this condition can cause major harm to the heart, blood vessels, eyes, kidneys, and nerves. Around 830 million people in the world with diabetes reside in low- and middle-income environments (World Health Organization). This study aims to identify and assess the pathogenicity of APPL1 variants associated with diabetes.
Mutation in RPL10 Disrupts Ribosomal Function and Contributes to Autism Spectrum Disorder

Elaine Vanterpool and Paula Ramirez-Mejia

Autism 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.
Analysis of WWOX Gene Associated with Cancer

Elaine Vanterpool and Jovaughn Redley

Cancer is a disease caused by abnormal cell growth and uncontrollable spread throughout one’s body. According to the World Health Organization, about 1 in 5 people develop cancer: 1 in 9 in males and 1 in 12 in females (WHO). WWOX was the gene studied, and it has been reported to be involved in cancer progression. Specifically with Gastric cancer, an increase in invasion and migration of Gastric Cancer cells was caused by the WWOX gene. Simple ClinVar was used to identify WWOX as a gene and the three missense variants associated with the WWOX gene; Pro47Thr, Asp58Asn, and His46Tyr. WWOX is a tumor suppressor gene that encodes a protein of 414-amino acids, found in the Golgi system and the cytoplasm. It has a short chain of dehydrogenase/reductase central domain, and two WW domains. Polyphen-2 and SIFT were used to determine the pathogenicity of the three variants. PolyPhen-2 predicted that Pro47Thr was damaging, Asp58Asn was benign, and His46Tyr was damaging. SIFT predicted that Pro47Thr possibly impacts protein function, Asp58Asn was to be tolerated, and His46Tyr possibly impacts protein function. The pathogenicity of these mutations suggests that the VWOX protein could be affected by the mutations. It may also affect gene expression in different lung, breast, prostate, ovarian, and gastric cells. Further studies are being conducted for the WWOX gene and its variants. This study contributes to the ongoing research and implications of the WWOX gene, associated with cancer.