The Analysis of THRA Variants in Hypothyroidism

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\u27s purpose is to assess and determine the pathogenicity of THRA variants linked to hypothyroidism.https://ouscholars.oakwood.edu/student-posters/1102/thumbnail.jp

An Analysis of PON1 Variants Associated with Cardiovascular Disease (CVD)

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.https://ouscholars.oakwood.edu/student-posters/1104/thumbnail.jp

Analysis of KCNJ2 Variants Associated with Wolff-Parkinson-White Syndrome

Wolff-Parkinson-White (WPW) syndrome is a cardiac disorder characterized by an accessory electrical pathway, leading to tachycardia and arrhythmias. It is diagnosed via electrocardiogram (ECG), showing a shortened PR interval and delta wave. WPW is typically managed with medications, catheter ablation, or surgery. Although primarily caused by anatomical anomalies, emerging research suggests genetic factors, including ion channel mutations, may contribute to the condition. The KCNJ2 gene encodes an inward-rectifier potassium channel critical for cardiac excitability. Mutations in KCNJ2 are linked to Andersen-Tawil syndrome, a disorder featuring arrhythmias and muscle weakness, raising questions about its role in WPW. This study investigates whether KCNJ2 variants influence WPW syndrome, potentially affecting its severity.https://ouscholars.oakwood.edu/student-posters/1096/thumbnail.jp

The Role of NKX2-5 variants associated with Congenital Heart Disease

About 1% of live births worldwide are affected by congenital heart disease (CHD), a group of structural heart defects that exist from birth. Finding and evaluating the effects of NKX2-5 variations linked to CHD is the goal of this study. From basic heart defects like atrial septal defects (ASD) to more intricate malformations, congenital heart disease (CHD) encompasses a variety of structural heart abnormalities. Its development is influenced by both environmental and genetic factors. NKX2-5 is a protein coding gene that encodes a home box- containing a transcription factor. This gene plays a role in the early development of the heart, and mutations in it have been connected to abnormalities of the conduction system and structural heart defects. Potential impacts of NKX2-5 mutations are assessed using computational tools such as SIFT and PolyPhen-2. The NKX2-5 variants Lys15lle andGln22Arg were evaluated to see if it was pathogenic or benign. Variant Lys15lle was predicted to be probably damaging by Polyphen-2 and predicted to affect protein function by SIFT analysis. The variant Gln22Arg mutation predicted to be benign by Polyphen-2 and predicted to affect protein function by SIFT. The pathogenicity of these mutations suggests that impaired gene function affects gene expression patterns necessary for healthy heart development and function. This study contributes to current research by examining the role of NKX2-5 mutations in the pathophysiology of CHD emphasizing the need for genetic screening and early diagnosis in affected individuals.https://ouscholars.oakwood.edu/student-posters/1090/thumbnail.jp

Analysis of DMD Variants Associated with Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy is an X-linked recessive disorder that causes muscle weakness. This disease is characterized by frequent falls, difficulty walking, running, jumping, or scoliosis. Duchenne Muscular Dystrophy 1 in every 5000 boys worldwide causes a gene tic mutation that prevents the production of dystrophin. This study aims to identify and assess the pathogenicity of DMD variants associated with Duchenne Muscular Dystrophy. Genetic mutations responsible for Duchenne Muscular Dystrophy have been reported. Studies regarding DMD and its specific role in causing Duchenne Muscular Dystrophy have been reported to be accurate and effective. X-linked inheritance patterns are applied to this disease\u27s pathogenesis and genetic and environmental factors. ClinVar was used to identify the DMD as a gene associated with Duchenne Muscular Dystrophy and the multiple variants, single nucleotide missense mutations, p.Lys765Glu, p.His446Arg, and p.Thr715Ser. The DMD gene codes for a dystrophin cytoskeletal protein, a scaffold protein that is a crucial link between sarcolemma and actin cytoskeleton that helps stabilize muscle fibers during contraction. Pathogenic mutations in DMD are known to alter the expression of specific muscle tissues. The DMD protein is expressed in most skeletal and heart muscles. Computational tools SIFT and PolPhen-2 were used to determine the pathogenicity of the three variants.SIFT predicted the p.Lys765Glu to be damaging, p.His446Arg to be tolerated, and p.Thr715Ser to be tolerated. On the other hand, Polphen-2 predicted p.Lys765Glu to be damaging, and the other two mutations were benign. The pathogenicity of these mutations suggests that the functionality of the dystrophin cytoskeletal protein was affected, which also potentially affects the gene expression and the X chromosome within the spine. Previous studies have connected pathogenic mutations in DMD to Duchenne Muscular Dystrophy as they have implicated in dilated cardiomyopathy, which is observed in those with Duchenne Muscular Dystrophy.https://ouscholars.oakwood.edu/student-posters/1125/thumbnail.jp

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

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.https://ouscholars.oakwood.edu/student-posters/1092/thumbnail.jp

An Analysis of DGUOK Variants Associated with Mitochondrial DNA Depletion Syndrome

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\u27s purpose is to identify and assess the pathogenicity of DGUOK variants associated with MDDS.https://ouscholars.oakwood.edu/student-posters/1084/thumbnail.jp

Defective Sickle Cell Mutations

Sickle cell disease (SCD) is a group of inherited red blood cell disorders. It is an inherited hemoglobinopathy. Both alleles must be affected to manifest the disease. In sickle cell disease, the red blood cells become hard, sticky, and look like a sickle, making it difficult to pass through the blood vessels and carry oxygen. Sickle cell trait is more prevalent than sickle cell disease and affects 1 in 13 African American babies (According to the CDC). The clinical manifestation of sickle cell trait is not as aggressive and does not cause as much morbidity as sickle cell disease. This study aimed to identify the gene variants associated with sickle cell disease.https://ouscholars.oakwood.edu/student-posters/1113/thumbnail.jp

Impact of SMAD 4 Gene to Juvenile Polyposis Syndrome

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.https://ouscholars.oakwood.edu/student-posters/1119/thumbnail.jp

Title: An Analysis of HMBS Variants Associated with Acute Intermittent Porphyria

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.https://ouscholars.oakwood.edu/student-posters/1099/thumbnail.jp