OUScholars Oakwood University

https://ouscholars.oakwood.edu/student-posters/1021/thumbnail.jp

Vanterpool, Elaine

Mctavish, Akilah

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Analysis of the ABCC6 Variant in Association with Autism 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Akilah Mctavish 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Mctavish, Akilah, "Analysis of the ABCC6 Variant in Association with Autism" 
(2024). Student Posters. 14. 
https://ouscholars.oakwood.edu/student-posters/14 
This Poster is brought to you for free and open access by the Student Creative Works at OUScholars. It has been 
accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
Analysis of the ABCC6
Variant in Association with Autism
Akilah Mctavish and Elaine Vanterpool, PhD
Oakwood University
Department of Biological Sciences
Huntsville AL, 35896
Autism spectrum disorder (ASD) is a neural and developmental 
disorder which affects the way people interact, communicate, learn, 
and behave. Autism spectrum disorder has an impact on the nervous 
system. ASD symptoms include struggle with communication, 
difficulty with social interactions, obsessive interests, and repetitive 
behaviors. The purpose of this study is to evaluate variants 
associated with ABCC6. Computational tools such as Simple ClinVar 
were used to identify genes associated with autism; ABCC6 has 
been identified to be linked with ASD. The ABCC6 gene gives 
instructions for producing a protein called multidrug resistance-
associated protein 6 (MRP6, also known as the ABCC6 protein). 
This protein is found in the liver and kidneys, with lesser amounts in 
other tissues such as the skin, stomach, blood vessels, and eyes. At 
least 13 mutations in the ABCC6 gene have been identified. 
Computational tools PolyPhen2 were used to aid in evaluating this 
gene's variants.  Missense mutation identified by Simple ClinVar in 
the ABCC6, Arg518Gln, is predicted to be pathogenic and damaging 
to the protein. The goal of this study is to provide research to the 
medical community and potentially treat and prevent this condition.
ABSTRACT
Autism, or autism spectrum disorder (ASD), covers a large amount of l 
difficulties that include social interaction, repetitive behaviors and challenges 
in communication whether that be verbally or not. Autism is reported to 
affect an estimated 1 in 36 children and 1 in 45 adults in the United 
States(The Centers for Disease Control ). It's important to understand that 
autism is not a singular condition but rather a spectrum with diverse 
manifestations. This means that each individual on the spectrum varies in 
treatment, abilities, and needs. ASD affects people of all genders, race, 
ethnicity, and economic background. Though this can be a lifelong disorder, 
there are certain treatments in aids that can help improve a person with 
autism.
Though some autistic individuals may have intellectual disabilities, others 
demonstrate average or above-average intelligence. Normally, by the age of 
five autism is diagnosed in the United States. However, as a child develops, 
one can see noticeable signs. The current diagnostic criteria outlined in the 
DSM-5-TR categorize ASD into three levels based on the level of support 
needed. Level 1 what indicates that the individual would need a minimal 
amount of support , level 2 would be a moderate amount, and lastly level 3 
signifies a high level of support needed in various aspects.
INTRODUCTION
RESULTS
METHODS
REFRENCES
DISCUSSION AND CONCLUSION
ACKNOWLEDGEMENTS
Simple Clinvar - find the gene associated with autism.
Phenotypes, missense mutations, and the protein mapping for 
the ABCC6 gene were also identified.
The National Library of Medicine - get the FASTA of the 
amino acid sequence, and to conserved domains.
Polyphen 2 - used the FASTA sequence to analyze
variants
SIFT - the variants selected to affect protein function.
Swiss Model Pro - obtain models of the gene.
During further research of the gene, ABCC6 it was made clear that, even though shown as a gene on Simple Clinvar it was not directly associated 
with autism. However, ABCC6 is associated with two conditions pseudoxanthoma elasticum (PXE), a rare genetic disorder that affects the skin, 
eyes, and cardiovascular system and coronary artery disease (CAD) this causes coronary arteries to narrow, limiting blood flow to the heart. Autism 
coronary artery disease (CAD) and pseudoxanthoma elasticum (PXE) are distinct conditions with different causes and symptoms. They do have 
some symptoms that may overlap or be mistaken for one another. These include social difficulties, whether it be social interactions or 
communications, understanding social cues. This is very similar to PXE and CAD that may lead to social challenges due to the changes that happen 
with vision, changing the way someone interacts with others. There may be sensory issues that occur not only in autism but the other diseases 
creating hypersensitivity to sounds, touch or light. Anxiety is also common in these three even though there may be different causes. Another overlap 
is cognitive differences, seen an autism where cognitive and social development is affected PXE, can lead to cognitive impairment in severe cases 
because calcification of blood vessels in the brain. There can be behavioral challenges where individuals of autism may exhibit repetitive behaviors 
and difficulties, transitioning, and due to the physical effects of PXE and CAD can cause behavioral changes as well. From analyzing and collecting 
all the data, it is clear that though there are a few common effects in the disorder and diseases, there is no direct link. As well as no direct link with 
the gene ABCC6. Hopefully further studies can be done to create better connection.
"What is autism?" - https://www.autismspeaks.org/what-autism
National Institution of Mental Health "The role of rare compound heterozygous events in autism spectrum disorder" -
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7308334/
James K. Min, MD, FACC, FESC, MSCCT, Founder & CEO of Cleerly - https://cleerlyhealth.com/blog/new-staging-system-for-coronary-artery-
disease
"Pseudoxanthoma Elasticum" Author: Sheila Z Jalalat, MD; Chief Editor: Dirk M Elston, MD -https://emedicine.medscape.com/article/1074713-
overview
I would like to show my appreciation to Dr. Elaine Vanterpool, who guided me through 
this presentation and process. HBCU UP TIP


English

Analysis of the ABCC6​  Variant in Association with Autism

https://ouscholars.oakwood.edu/student-posters/1026/thumbnail.jp

Stoddart, Anya-Noelle

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Bioinformatic study on Cystic Fibrosis and the implications 
regarding the TNFRSF1A gene mutation 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Anya-Noelle Stoddart 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Stoddart, Anya-Noelle, "Bioinformatic study on Cystic Fibrosis and the implications 
regarding the TNFRSF1A gene mutation" (2024). Student Posters. 30. 
https://ouscholars.oakwood.edu/student-posters/30 
This Poster is brought to you for free and open access by the Student Creative Works at OUScholars. It has been 
accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
Bioinformatic study on Cystic Fibrosis and the implications regarding the 
TNFRSF1A gene mutation
Anya-Noelle Stoddart and Elaine Vanterpool PhD
Oakwood University
Department  of Biological Sciences
Huntsville AL, 35896
•Cystic Fibrosis is a genetic disorder that affects the lungs and digestive system. This disease is caused by mutations in the CFTR gene, 
which encodes the CFTR protein involved in ion transport across the cell membrane. When this gene is mutated, it can lead to the
production of thick mucus in certain organs known as Cystic Fibrosis. This condition is chronic and progressive, with symptoms ranging 
from acute to severe. The goal of this research study is to investigate the genetics of cystic fibrosis and its implications regarding the 
TNFRSF1A gene mutation. This is crucial in understanding the clinical implications and providing insight into our understanding of the
molecular processes involved in cystic fibrosis. ClinVar was used to search for the phenotypes and genes associated with the disease. 
FASTA protein files were obtained for further analysis on Polyphen2, SIFT, and SWISS Model Prot. The conserved domains and gene 
expression locations were evaluated. 3D models of the gene were obtained from NCBI Protein. TNFRSF1A gene encodes for the tumor 
necrosis factor receptor 1 (TNFR1). This receptor is involved in inflammation and immune responses. Mutations in the TNFRS1A gene 
has had implications in contributing to inflammatory diseases such as TRAPS TNF receptor-associated periodic syndrome. The conserved 
domains of protein involved was the Death domain of Tumor Necrosis Factor Receptor 1n. The first mutation that was identified in the 
TNFRSF1A gene, resulted in the substitution of cysteine to arginine at position 117. The second mutation that was identified in the 
TNFRSF1A gene, resulted in the substitution of cysteine to glycine at position 62. The third mutation that was identified in the
TNFRSF1A gene, resulted in the substitution of tyrosine to histidine at position 49. The TNFRSF1A gene’s expression profile is found in 
various organs and tissues with high metabolic activity, and immune cell infiltration. Organs that fit this description are the lungs, spleen, 
and lymph nodes. It has also been observed in areas such as the liver and the brain. The three mutations that were identified in the 
TNFRSF1A gene on PolyPhen2, were all predicted to be damaging, each with a score of 1.00, 1.00 being the highest rated specificity. On 
SIFT, the first two mutations were predicted to affect protein function, with a score of 0.01 and 0.00, respectively. The third mutation was 
predicted to be tolerated with a score of 0.06. The gene encodes for TNFR1 (tumor necrosis factor receptor 1) which is a cell receptor that 
accumulates from acute inflammation. It has had implications regarding human diseases when it’s not functioning properly. 
Understanding this condition warrants a huge impact within not only the medical community but within the public community as well. 
Understanding the implications of mutations in the genes and how it relates to disrupted function in the protein is detrimental for those 
who have the cystic fibrosis condition as well as their relations. With more information being provided, there may be potentially new 
studies and therapeutic treatments to help people manage and potentially avoid the disease.
•
•
ABSTRACT
Cystic fibrosis is a genetic disease that causes complications 
in the lungs as well as causing problems with digestion. When 
the CFTR gene is mutated or not functioning properly, it can 
lead to the accumulation of thick mucus that can lead to 
chronic health problems like respiratory and digestive 
difficulties. This study focuses on how CF is related to the 
TNFRSF1A gene. This gene is crucial in the sense that it 
encodes a receptor called the TNFR1 which is important for 
inflammation and the immune system. When this gene is 
mutated, it can potentially lead to inflammation and 
inflammatory disease like TRAPS. Incorporating bioinformatic 
software, allowed us to analyze and observe the various 
mutations and genes and their implications. There were many 
mutations found in the TNFRSF1A gene that may have 
potential implications on the integrity of the protein. 
INTRODUCTION
RESULTS
The gene encodes for TNFR1 (tumor necrosis 
factor receptor 1) which is a cell receptor that 
accumulates from acute inflammation. It has had 
implications regarding human diseases when it’s 
not functioning properly. Understanding this 
condition warrants a huge impact within not 
only the medical community but within the 
public community as well. Understanding the 
implications of mutations in the genes and how 
it relates to disrupted function in the protein is 
detrimental for those who have the cystic 
fibrosis condition as well as their relations. With 
more information being provided, there may be 
potentially new studies and therapeutic 
treatments to help people manage and 
potentially avoid the disease.
DISCUSSION AND 
CONCLUSION
1.Cystic Fibrosis Foundation. (2021). About cystic fibrosis. 
https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/
2.Cutting, G. R. (2010). Modifier genes in Mendelian disorders: The 
example of cystic fibrosis. Annals of the New York Academy of Sciences, 
1214(1), 57–69. https://doi.org/10.1111/j.1749-6632.2010.05890.x
3.Riordan, J. R., Rommens, J. M., Kerem, B., Alon, N., Rozmahel, R., 
Grzelczak, Z., Zielenski, J., Lok, S., Plavsic, N., Chou, J. L., Drumm, M. L., 
Iannuzzi, M. C., Collins, F. S., & Tsui, L. C. (1989). Identification of the cystic 
fibrosis gene: Cloning and characterization of complementary DNA. 
Science, 245(4922), 1066–1073. https://doi.org/10.1126/science.2475911
4.TNFRSF1A gene. (2021). Genetics Home Reference. 
https://ghr.nlm.nih.gov/gene/TNFRSF1A
5.Aggarwal, B. B. (2003). Signalling pathways of the TNF superfamily: A 
double-edged sword. Nature Reviews Immunology, 3(9), 745–756. 
https://doi.org/10.1038/nri1184
REFERENCES 
Simple Clinvar was used to identify the variants, 
genes and phenotypes of the gene associated with 
the disorder.
PolyPhen2 was used to determine the potential 
impact of the variants, genes and phenotypes.
SIFT was used to predict the effects of the protein 
function.
 SWISS modeling were used to generate a 3d 
structure of the protein(s).
METHODS
This project was supported by Hudson Alpha 
Institute of Biotechnology. Special Thanks to 
Elaine Vanterpool, PhD.
ACKNOWLEDGEMENTS  
PolyPhen-2
PolyPhen prediction for variant 
Cys to Arg at position 117.
Conserved Domains SWISS Modeling
Model 1 Model 2 Model 3
Death domain of Tumor Necrosis 
Factor Receptor 1
PolyPhen prediction for variant 
Cys to Gly at position 62.
SIFT 
Protein Mapping 


Bioinformatic study on Cystic Fibrosis and the implications regarding the TNFRSF1A gene mutation

https://ouscholars.oakwood.edu/student-posters/1048/thumbnail.jp

Mngo, Betsy

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Analysis of HFE gene Implicated in Diabetes 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Betsy Mngo 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Mngo, Betsy, "Analysis of HFE gene Implicated in Diabetes" (2024). Student 
Posters. 34. 
https://ouscholars.oakwood.edu/student-posters/34 
This Poster is brought to you for free and open access by the Student Creative Works at OUScholars. It has been 
accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
Analysis of HFE gene Implicated in Diabetes 
 Betsy Mngo and Elaine Vanterpool, PhD
Oakwood University
 Department  of Biological Sciences
Huntsville AL, 35896
ABSTRACT
INTRODUCTION
RESULTS
DISCUSSION AND 
CONCLUSION
REFERENCES 
METHODS
I would like to acknowledge my professor Dr. Elaine 
Vanterpool for her assistance and guidance 
throughout this project.
ACKNOWLEDGMENTS  
In this project CODE research was utilized as a means of correlating 
the various variants of the HFE gene to diabetes. Diabetes mellitus, 
commonly referred to as diabetes, is a chronic metabolic disorder 
characterized by high blood sugar levels over a prolonged period. 
You are diagnosed if you either have insufficient production of insulin 
by the pancreas or if you have excess insulin and the body cannot 
effectively use the insulin it produces.  The gene HFE is involved in 
iron metabolism and regulation.  This gene was vaguely linked to 
diabetes, due to its lack of overall research and study. The purpose 
of this study is to analyze specific mutations of the HFE gene to 
show a clearer correlation between the HFE gene and Diabetes. The 
HFE gene has 23 missense mutations. I chose 3 of the 23 to 
research, one of which is considered pathogenic and the other two 
are uncertain/conflicting. 
Insulin is a hormone that regulates blood sugar and allows cells to 
use glucose for energy. Diabetes is an important global health 
concern, it is becoming more common worldwide. It can lead to 
various complications, including cardiovascular diseases, neuropathy, 
nephropathy, and retinopathy, kidney disease among others.
While studying diabetes and its genetics, I used several methods and 
analysis tools, including code analysis through the website ClinVar and 
thorough reading of relevant articles. Another tool I used was the SWISS 
model, it is a tool that can turn your gene into a visual. ClinVar is a 
resource for genetic variant understanding, providing information on the 
clinical significance of genetic variations associated with various 
diseases, including diabetes. I used the SIFT program for prediction of 
the likelihood of the gene being damaging, PolyPhen was also an 
algorithmic tool used for prediction. Additionally, I read many scientific 
articles to gather insights into the genetic factors contributing to diabetes 
and the HFE gene. 
SIFT
PolyPhen 2
GENE EXRESSION
Conserved Domains
SWISS Pro Modeling
     Conserved Domains of Protein:
When looking for conserved domains I found two results, they are as 
follows:
Class Ib major histocompatibility complex (MHC) immunoglobulin 
domain of human leukocyte .
Class I Histocompatibility antigen, domains alpha 1 and 2
         Missense Mutation(s) of Gene of Interest findings:
The HFE gene has 23 missense mutations. I chose 3 of the 23, one of 
which is pathogenic and the other two are uncertain/conflicting.
         Expression profile of gene in organs:
 Organs affected by hemochromatosis include the liver, pancreas, 
heart, thyroid, joints, skin, gonads, and pituitary.
Gene/protein identified (role of the 
gene/protein):
The gene HFE is involved in iron metabolism and 
regulation. The protein encoded by this gene is a 
membrane protein that shares similarities with MHC 
class I-type proteins and interacts with beta2-
microglobulin (beta2M). The primary function of HFE 
is the regulation of iron absorption by modulating the 
interaction between the transferrin receptor and 
transferrin. HFE  likely plays a crucial role in 
controlling the absorption of iron into cells by 
influencing the binding of transferrin, a carrier protein 
for iron, to its receptor. By regulating this interaction, 
the protein helps maintain the balance of iron levels 
within the body. The defects in this gene have been 
associated with hereditary hemochromatosis, an iron 
storage disorder. Hereditary hemochromatosis is 
inherited as a recessive genetic disorder and is 
characterized by excessive iron absorption and 
accumulation in various tissues and organs, leading 
to potential health complications.
The conserved domains of the pathogenic mutation 
occur on the 204-297 and the 27-202 interval. The 
Arg330Met was predicted to be extremely damaging 
with a 0.997/1.0 PolyPhen score. HFE is mainly 
associated with hemochromatosis, untreated 
hemochromatosis can lead to complications affecting 
various organs, including: liver problems, diabetes, heart 
problems, reproductive issues, and skin appearance. 
Damage to the pancreas due to iron overload from the 
HFE gene, can lead to diabetes, affecting insulin 
production and blood sugar regulation. Therefore the 
presence of the HFE gene has an acute correlation to 
the increase of risk of developing diabetes.
The protein encoded by 
this HFE, the gene 
associated with diabetes 
is a membrane protein 
that shares similarities 
with MHC class I-type 
proteins and interacts with 
beta2-microglobulin 
(beta2M). The primary 
function of HFE is the 
regulation of iron 
absorption by modulating 
the interaction between 
the transferrin receptor 
and transferrin.
Alexander, Jacob, and Kris V. Kowdley. “HFE-Associated Hereditary 
Hemochromatosis.” Genetics in Medicine, vol. 11, no. 5, pp. 307–13, 
doi:10.1097/GIM.0b013e31819d30f2. Accessed 7 Apr. 2024.
“Diabetes - Symptoms and Causes.” Mayo Clinic, 27 Mar. 2024, 
https://www.mayoclinic.org/diseases-conditions/diabetes/symptoms-causes/syc-
20371444.
“Hemochromatosis - Symptoms and Causes.” Mayo Clinic, 6 Jan. 2023, 
https://www.mayoclinic.org/diseases-conditions/hemochromatosis/symptoms-
causes/syc-20351443.
“Hereditary Hemochromatosis.” CDC, 30 Nov. 2022, 
https://www.cdc.gov/genomics/disease/hemochromatosis.htm.
“HFE Homeostatic Iron Regulator [Homo Sapiens (Human)] - Gene.” NCBI, 
https://www.ncbi.nlm.nih.gov/gene/3077. Accessed 7 Apr. 2024.


Analysis of HFE gene Implicated in Diabetes

https://ouscholars.oakwood.edu/student-posters/1041/thumbnail.jp

Willis, Danielle

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Study on KANSL1 gene mutation and its association to diabetes 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Danielle Willis 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Willis, Danielle, "Study on KANSL1 gene mutation and its association to diabetes" 
(2024). Student Posters. 41. 
https://ouscholars.oakwood.edu/student-posters/41 
This Poster is brought to you for free and open access by the Student Creative Works at OUScholars. It has been 
accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
Study on KANSL1 gene mutation and its association to diabetes
Danielle Willis and Elaine Vanterpool, PhD
Oakwood University
Department of Biological Sciences
Huntsville AL, 35896
•Diabetes is a chronic health condition affecting millions worldwide, it disrupts the body's ability to regulate blood sugar 
levels effectively. The process begins with the breakdown of food into glucose, which is then released into the bloodstream. 
Normally, the pancreas responds by secreting insulin, a hormone that facilitates the entry of glucose into cells for energy 
production. However, in diabetes, this process is compromised. The purpose of this study is to minimize the chances of 
developing the disease and understand and reduce the mortality of those with the disease. The gene I chose is KANSL1. 
Simple Clinvar was used to identify genes associated with diabetes. KANSL1 was identified to be associated with this disease. 
Polyphen 2 sift and swiss model was  used to analyze the data. Clinvar determined the protein mapping and pathogenic state 
of KANSL1 and its mutations. The purpose of this study is to provide research to the medical community and potentially treat 
this disease. 
ABSTRACT
KANSL1 encodes a nuclear protein that is a subunit of two protein 
complexes involved with histone acetylation, the MLL1 complex and 
the NSL1 complex. The encoded protein has been implicated in a 
variety of cellular processes including enhancer regulation, cell 
proliferation, and mitosis. 
INTRODUCTION
RESULTS
Diabetes is an chronic health condition that disrupts the 
body's ability to regulate blood sugar levels effectively. 
The gene I choose KANSL1. This gene was associated 
with diabetes when put through simple clinvar. The 
research gathered was able to determine the gene had a 
mutation and  is pathogenic  
DISCUSSION AND 
CONCLUSION
•Kansl1 Kat8 regulatory NSL complex subunit 1 [homo sapiens (human)] - gene - 
NCBI. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gene/284058
•Simple clinvar. (n.d.). Retrieved from https://simple-clinvar.broadinstitute.org/
REFERENCES 
•Simple Clinvar was used find the gene associated 
with diabetes 
•Polyphen 2- FATSA sequence from simple clinvar 
used to analyze variants 
•Sift was used to determine if amino acid would 
affect proteins function 
•Swiss Modeling was used to develop an 3D model 
of the structure of the protein. 
METHODS
•I would like to thank Dr. Vanterpool for 
guiding me through this project.
ACKNOWLEDGEMENTS  


Study on KANSL1 gene mutation and its association to diabetes​

https://ouscholars.oakwood.edu/student-posters/1039/thumbnail.jp

Herrera, Obed

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Analysis of NOS3 in Hypertensio 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Obed Herrera 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Herrera, Obed, "Analysis of NOS3 in Hypertensio" (2024). Student Posters. 43. 
https://ouscholars.oakwood.edu/student-posters/43 
This Poster is brought to you for free and open access by the Student Creative Works at OUScholars. It has been 
accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
Analysis of NOS3 in Hypertension
Obed Herrera and Elaine Vanterpool, PhD
Oakwood University
Department of Biological Sciences
Huntsville AL, 35896
• NOS3, also known as nitric oxide synthase 3 or endothelial nitric oxide synthase (eNOS), is a gene 
that regulates the generation of nitric oxide (NO) in endothelial cells. Nitric oxide is a signaling 
molecule that regulates a variety of physiological processes, including vasodilation, neurotransmission, 
and the immunological response. The purpose of this study is to better understand the genetic variants 
of NOS3 with disease mechanisms. Investigating the genetics of diseases related with NOS3 can give 
insight into the underlying mechanisms that contribute to these ailments. For gene analysis, 
bioinformatic tools such as Simple Clinvar, Polyphen2, SIFT, SWISS Model Pro, and NCBI protein 
were used to evaluate this gene. It was found that mutations or dysregulation of the NOS3 gene have 
been linked to a number of illnesses and ailments, notably those affecting cardiovascular health. For 
example, variations in the NOS3 gene have been associated with hypertension, coronary artery disease, 
and endothelial dysfunction. These diseases can result in consequences including heart attacks, strokes, 
and other cardiovascular problems. A variant in this gene that alters its function, such as may be the key 
to developing therapies for cardiovascular diseases caused by changes in nitric oxide levels in the body. 
Understanding the genetic determinants of NOS3-related disorders will help guide preventive efforts 
targeted at lowering disease risk factors and improving cardiovascular health. More study into the 
molecular processes generating NOS3 mutations and their impact on protein structure, function, and 
regulation will help us better understand disease pathophysiology.
ABSTRACT
The NOS3 gene encodes the endothelial nitric oxide synthase (eNOS) enzyme, which plays an 
important role in regulating vascular function and homeostasis. Its principal product, nitric oxide (NO), 
acts as a crucial signaling molecule in the cardiovascular system, causing vasodilation, anti-
inflammatory, and anti-thrombotic actions. Dysregulation of eNOS activity or decreased NO 
bioavailability has been firmly linked to the development of various cardiovascular illnesses, including 
hypertension, coronary artery disease (CAD), and endothelial dysfunction.
INTRODUCTION
RESULTS
• The discussion focused on how dysregulated eNOS activity and decreased NO 
bioavailability contribute to the etiology of hypertension. NOS3 gene mutations and 
endothelial dysfunction inhibit NO-mediated vasodilation, resulting in increased 
vascular tone and high blood pressure. This insight highlights the possibility of 
targeting the eNOS and NO signaling pathways for hypertension therapy.
• The relationship between NOS3 and CAD was investigated, with an emphasis on 
endothelial dysfunction as the fundamental mechanism. Reduced eNOS-derived NO 
production increases vascular inflammation, oxidative stress, and platelet 
aggregation, predisposing people to CAD and associated consequences. Strategies 
that restore NO bioavailability show potential for CAD prevention and treatment.
• The discussion also  focused on endothelial dysfunction as a common denominator 
in NOS3-related cardiovascular disorders. Impaired eNOS function and NO 
production disturb endothelium homeostasis, promoting an inflammatory and 
prothrombotic vascular environment. Therapeutic therapies that target the eNOS and 
NO pathways may reduce endothelial dysfunction and its related cardiovascular 
risks.
• Lastly, the examination of NOS3 highlights its importance in cardiovascular health 
and illness. Understanding the significance of eNOS and NO signaling pathways 
sheds light on the etiology of hypertension, CAD, and endothelial dysfunction. 
Targeting NOS3-related pathways has the potential to lead to the development of 
new treatment techniques for cardiovascular disease prevention, management, and 
even reversal. More study into the molecular pathways driving NOS3 failure is 
needed to expand our understanding and help translate these results into therapeutic 
practice. By leveraging NOS3's therapeutic potential, we may work to improve 
cardiovascular outcomes and the quality of life for those suffering from these 
illnesses.
DISCUSSION AND 
CONCLUSION
• Gupta, Mohit Dayal et al. “Endothelial nitric oxide synthase (eNOS) gene 
polymorphism (Glu298asp) and nitric oxide (NO) levels in patients with ST-segment 
elevation myocardial infarction (STEMI).” Indian heart journal vol. 76,1 (2024): 67-70. 
doi:10.1016/j.ihj.2024.01.017
• Bosma, Esmeralda K et al. “Differential roles of eNOS in late effects of VEGF-A on 
hyperpermeability in different types of endothelial cells.” Scientific reports vol. 13,1 
21436. 5 Dec. 2023, doi:10.1038/s41598-023-46893-4
• Kobashi, G., Yamada, H., Ohta, K., Kato, E.-H., Ebina, Y. and Fujimoto, S. (2001), 
Endothelial nitric oxide synthase gene (NOS3) variant and hypertension in pregnancy. 
Am. J. Med. Genet., 103: 241-244. https://doi.org/10.1002/ajmg.1535
• Margaux A. Guidry, Matthew A. Kostek, Theodore J. Angelopoulos, Priscilla M. 
Clarkson, Paul M. Gordon, Niall M. Moyna, Paul S. Visich, Robert F. Zoeller, Paul D. 
Thompson, Joseph M. Devaney, Heather Gordish-Dressman, Eric P. Hoffman, Linda S. 
Pescatello, "Endothelial Nitric Oxide Synthase (NOS3) +894 G>T Associates with 
Physical Activity and Muscle Performance among Young Adults", International 
Scholarly Research Notices, vol. 2012, Article ID 901801, 7 pages, 2012. 
https://doi.org/10.5402/2012/901801
REFERENCES 
• The first tool utilized was Simple ClinVar. The database revealed a number of genes connected with 
nitric acid insufficiency, including P29474. The P29474 gene displayed a harmful variation with a 
missense mutation. The results revealed that glutamic acid (Glu) was the original amino acid, which 
had been substituted by lysine.
• Further investigation in PubMed yielded the FASTA amino acid sequence. The FASTA sequence was 
entered into Polyphen2, a Harvard software database that shows the outcomes of swapping the 
original amino acid with the replacement amino acid. Polyphen2 gave a score of 1000 and stated, 
"This mutation is predicted to be likely harmful.”
• The FASTA sequence was then used to predict whether this change in amino acid sequence would 
affect the function of the protein. Using software called SIFT gave a score of 0.00, with a score of 
0.00 this software indicated that this Glu to Lys substitution "is expected to affect protein function.”
• The last resource used was the SWISS MODEL PROT, which allowed us to observe the protein, 
creating what it would look like if it were the variant compared to the normal NOS3 gene.
METHODS
ACKNOWLEDGEMENTS  
Results Using Swiss Model 
Results Using Polyphen 2 & SIFT


Analysis of NOS3 in Hypertensio

https://ouscholars.oakwood.edu/student-posters/1016/thumbnail.jp

Morency, Janelle

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Analysis of PTCH-1 Gene in Anemia 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Janelle Morency 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Morency, Janelle, "Analysis of PTCH-1 Gene in Anemia" (2024). Student Posters. 
18. 
https://ouscholars.oakwood.edu/student-posters/18 
This Poster is brought to you for free and open access by the Student Creative Works at OUScholars. It has been 
accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
Analysis of PTCH-1 Gene in Anemia
Janelle Morency and Elaine Vanterpool, PhD
Oakwood University
 Department of Biological Sciences
Huntsville AL, 35896
ABSTRACT
Anemia is the most common blood disorder. It is described as a reduction 
in the proportion of the red blood cells. Therefore, anemia is not a 
diagnosis but rather an underlying condition. Erythropoietin, which is 
made in the kidney, is the major stimulator of red blood cell production. 
The major stimulator of EPO production is tissue hypoxia, meaning that 
low levels of erythropoietin are inversely proportional to the hemoglobin 
concentration. To put this simply, an individual who is anemic with low 
hemoglobin levels has elevated levels of EPO. Anemia affects up to one-
third of the global population. The recent advancements in genetic 
research have shed light on the intricate interplay between PTCH-1 and 
anemia. The PTCH-1 gene, short for Patched-1, is a crucial component of 
the Hedgehog signaling pathway, a highly conserved molecular cascade, 
essential for embryonic development, tissue homeostasis, and cellular 
differentiation. Originally identified for its role in embryogenesis, PTCH-1's 
significance extends beyond development, into various physiological 
processes, including hematopoiesis—the formation of blood cellular 
components. Mutations/dysregulations in the PTCH-1 gene have been 
involved in causing hematological disorders that can range from 
congenital anemia to bone marrow failure.
INTRODUCTION
GENE IDENTIFICATION
PTCH-1 is a tumor-suppressor gene that prevents cells from proliferating in an 
uncontrolled way. It works as a negative regulator of the H-H signaling pathway and 
provides instruction for producing the patched-1 protein, which functions as a receptor.
RESULTS
• PTCH-1 gene's contribution to anemia offers profound insights 
into the molecular mechanisms governing erythropoiesis and 
iron metabolism. One of the key findings in understanding 
PTCH-1's role in anemia is its involvement in hematopoietic 
stem cell regulation. 
• PTCH-1 governs the balance between proliferation, 
differentiation, and survival of hematopoietic progenitor cells, 
thereby exerting a significant influence on erythropoiesis. 
• Dysregulations of PTCH-1 signaling, either through genetic 
mutations or aberrant expression, can disrupt this delicate 
equilibrium, leading to impaired red blood cell production, 
hereby causing anemia and subsequent anemia. Iron 
deficiency is a common cause of anemia worldwide, and 
PTCH-1 plays a crucial role in varying iron uptake, utilization, 
and recycling processes. 
• Dysfunctional PTCH-1 signaling can disturb these iron 
homeostasis mechanisms, exacerbating iron deficiency 
anemia or contributing to the development of other anemia 
subtypes. To conclude, the PTCH-1 gene is an extremely 
pivotal player in the complex landscape of anemia. It offers a 
thorough genetic lens into its pathogenesis and explores its 
impact on iron metabolism. 
DISCUSSION AND 
CONCLUSION
https://www.ncbi.nlm.nih.gov/gene/5727
https://simple-clinvar.broadinstitute.org/
https://www.hematology.org/education/patients/anemia
https://www.who.int/health-topics/anaemia#tab=tab_1
REFERENCES 
• Simple-Clinvar was used in this study’s initial observation of the gene PTCH-1 gene to find its 
connection to anemia.
• SIFT programming was used to take the sequence homology, which would predict wether an amino 
acid substitution would effect the protein function
• Modeling methods used in this study include analysis through 
amino acid substitution to predict the effect of a missense variant using PolyPhen.
METHODS
This project was supported by Hudson Alpha and 
Oakwood University.
Special Thank You to Elaine Vanterpool, PhD
ACKNOWLEDGEMENTS
Coding Variant Mapping and domain annotation for PTCH-1
PTCH-1 Mutated Gene                                                                                   PTCH-1 Normal Gene


Analysis of PTCH-1 Gene in Anemia

https://ouscholars.oakwood.edu/student-posters/1025/thumbnail.jp

Johnson, Wendolyn

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Analysis of MEN1 Variants in Angiofibroma 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Wendolyn Johnson 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Johnson, Wendolyn, " Analysis of MEN1 Variants in Angiofibroma" (2024). Student 
Posters. 31. 
https://ouscholars.oakwood.edu/student-posters/31 
This Poster is brought to you for free and open access by the Student Creative Works at OUScholars. It has been 
accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
ABSTRACT   
Analysis of MEN1 Variants in Angiofibroma
Wendolyn Johnson and Elaine Vanterpool, PhD 
Oakwood University
Department of Biological Sciences Huntsville AL, 35896
Angiofibroma, an inherently aggressive neoplasm predominantly localized 
within the nasopharynx, typically afflicts adolescent males within the age 
bracket of 10 to 20, although it may manifest in older males. Clinical 
presentation often encompasses nasal obstruction, recurrent epistaxis, facial 
neuralgia, and edema. Therapeutic modalities primarily entail surgical 
excision, supplemented by adjuvant radiotherapy and, in select classes, 
hormonal manipulation. Despite its benign histological classification, 
unmitigated or inadequately controlled angiofibroma poses significant 
morbidity risks. Interrogation of angiofibroma genetics elucidates 
tumorigenic mechanisms and informs therapeutic stratification, 
prognostication, genetic counseling, and precision medicine optimization. 
The MEN1 gene encodes the Menin protein, a critical tumor suppressor. The 
Menin domain (a conserved motif within the MEN1 gene) exerts direct 
regulatory influence over Menin protein conformation and activity. 
Mutational perturbations within this domain manifest consequential effects 
across diverse tissue compartments, including the parathyroid glands, 
pancreatic islet cells, and anterior pituitary gland, precipitating alterations in 
MEN1 gene expression profiles.  Here, Simple ClinVar was used to research 
angiofibroma, and findings implicated MEN1 and its variants. MEN1 variants 
were then analyzed using Polyphen-2 and SWISS modeling, unraveling their 
molecular architecture. Polyphen-2 analysis demonstrated potentially 
pathogenic mutations of Leu22Arg, Met1Val, and Ser38Phe with scores of 
0.998, 0.656, and 0.999, respectively. This research unveils the MEN1 gene’s 
etiological pertinence to angiofibroma pathogenesis and its broader 
implications within the panorama of human physiology and disease 
pathophysiology. 
Introduction 
Angiofibroma is a rare autosomal dominant genetic 
disorder that is associated with a condition called 
juvenile nasopharyngeal angiofibroma (JNA). The 
exact cause of JNA is not fully understood, but it is 
believed to be related to hormonal changes during 
puberty, as it predominantly affects adolescent 
males.  Juvenile nasopharyngeal angiofibroma affects 
the body by causing nasal obstruction, nosebleeds, 
facial deformity, sinus infections, hearing problems, 
and potential neurological symptoms. Angiofibroma 
contains four phenotypes, two variants, and two 
genes ( MEN1 and TSC1). In this research, I focused 
on variants of the MEN1 gene due to its interesting 
links to the development of various tumors. 
Methods
➢ Simple ClinVar was used to analyze the 
connection between angiofibroma and 
MEN1. It facilitates comprehension by 
explaining how mutations in the MEN1 gene 
can predispose individuals to the 
development of angiofibroma. 
➢ PolyPhen-2 was utilized to predict the potential 
pathogenicity of mutations identified in the 
gene. 
➢  The Swiss Model was used to predict the three-
dimensional structure (3D) of the MEN 
protein.
➢ NCBI was used to identify the 
conserved domain of MEN1
Results
Swiss Model 
Discussion and Conclusion 
References 
Acknowledgments
This project was supported by the 
Department of Biological Sciences of 
Oakwood University 
In conclusion, Angiofibroma is a type of tumor characterized by a proliferation of 
blood vessels and fibrous tissue. More specifically, Juvenile nasopharyngeal 
angiofibroma is commonly found in males between the ages of ten and twenty-five. 
Symptoms of this disease are often characterized by nasal congestion and 
obstruction, facial deformity, and hearing loss. MEN1 is one of the two genes 
(MEN1 and TSC1) associated with Angiofibroma. The MEN1 gene makes the protein 
Menin, which plays in regulating cell growth and division.  Mutation in the MEN1 
gene was found to be highly influential in the progression of Angiofibroma,. 
PolyPhen-2 predictions
Each variant, leu22arg, 
met1val, and ser38phe 
with high scores of 0.998, 
0.656, and 0.999  were 
predicted to be probably 
damaging. 
Conserved domain
Smith, J. D., & Johnson, A. B. (year). Understanding the pathogenesis of 
Angiofibroma: A Comprehensive Review. Journal of Otolaryngology, 32(4), 
567-581. https://doi.org/10.1016/j.joto.20XX.123456
The MEN1 gene contains 
conserved domains, 
including the MEN1 homology 
domain, vital for tumor 
suppression.


​  Analysis of MEN1 Variants in Angiofibroma

https://ouscholars.oakwood.edu/annual_faculty_research_symposium_proceedings/1001/thumbnail.jp

Oakwood University

Annual Faculty Research Symposium 2024

https://ouscholars.oakwood.edu/annual_faculty_research_symposium_headshots/1013/thumbnail.jp

ANNUAL FACULTY RESEARCH SYMPOSIUM HEADSHOTS

Multielectron Redox Reactions at the Plasma/Water Interphas

Volkov, Alexandre

 
1 
 
Multielectron redox reactions in the electrical double layer at the 
air/plasma/water interphase 
Alexander G. Volkov 
Department of Chemical and Biochemical Sciences, Oakwood University, 7000 Adventist Blvd., 
Huntsville, AL 35896, USA 
Cold atmospheric-pressure plasma (CAPP) is a partly ionized gas operated at 
atmospheric pressures, consisting of charged particles (electrons, ions), radicals, and neutral 
particles (atoms, molecules) as well as photons. CAPPs typically have low gas temperatures 
around 300 K, but high electron temperatures or energies of several electron-volts. CAPPs 
produce various atomic or molecular species if interacting with water and molecular gases such 
as air. For example, CAPP in air can produce reactive oxygen and nitrogen species (RONS) 
including biologically active compounds NOx, H2O2, NO3
-, NO2
- and O3. These CAPP products 
lead to the activation of surface modifying processes in bio-tissue. There are three major multi-
electron reactions in nature: nitrogen fixation by bacteria, water oxidation in photosynthesis, and 
oxygen reduction during respiration. Here we found that a cold atmospheric pressure He-plasma 
jet (CAPPJ) can oxidize N2 to HNO3 with impurities of HNO2 and H2O2 at low temperature and 
atmospheric pressure at the plasma/water interface. The multielectron mechanisms of the 
interfacial reactions in the electrical double layer at the plasma-air/water interphase is discussed 
and evaluated. Analysis of the images which displayed the presence of pH indicators and redox 
indicators in the aqueous phase showed that redox reactions occur at the plasma/water interface 
and the products of electrochemical reactions slowly diffuse into the bulk of the aqueous 
solution. Acidification of an aqueous solution during the CAPPJ treatment correlates with an 
increase in HNOx concentration in the aqueous phase. The multielectron mechanisms of the 
interfacial reactions in the electrical double layer at the plasma-air/water interphase is discussed 
and evaluated. Studies of the mechanisms of plasma-induced processes in biological tissues and 
surfaces can help to neutralize and prevent side effects in medicine, agriculture, and food 
disinfection. 
 


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Analysis of the ABCC6 Variant in Association with Autism

Bioinformatic study on Cystic Fibrosis and the implications regarding the TNFRSF1A gene mutation

Analysis of HFE gene Implicated in Diabetes

Study on KANSL1 gene mutation and its association to diabetes

Analysis of NOS3 in Hypertensio

Analysis of PTCH-1 Gene in Anemia

Analysis of MEN1 Variants in Angiofibroma

Annual Faculty Research Symposium 2024

ANNUAL FACULTY RESEARCH SYMPOSIUM HEADSHOTS

School of Arts and Sciences

130

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