Analysis of DMD Variants Associated with Duchenne Muscular Dystrophy

Authors

Elaine Vanterpool, Oakwood University
K’sia Byass, Oakwood University

Faculty Mentor

Dr. Elaine Vanterpool

Files

Description

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's 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.

Publication Date

2025

City

Huntsville

Disciplines

Biology

Recommended Citation

Vanterpool, Elaine and Byass, K’sia, "Analysis of DMD Variants Associated with Duchenne Muscular Dystrophy" (2025). Student Posters. 100.
https://ouscholars.oakwood.edu/student-posters/100