An Analysis of DGUOK Variants Associated with Mitochondrial DNA Depletion Syndrome

Authors

Elaine Vanterpool, Oakwood University
Ethan Harris, Oakwood University

Faculty Mentor

Dr. Elaine Vanterpool

Files

Description

Mitochondrial DNA Depletion Syndrome(MDDS) is a clinically heterogeneous group of autosomal recessive mitochondrial disorders that reduces the number of mitochondrial DNA (mtDNA) in the affected cells. This disease is characterized by the disruption of hepatocytes, skeletal muscle, and cerebral function. This study's purpose is to identify and assess the pathogenicity of DGUOK variants associated with MDDS.

Publication Date

2025

City

Huntsville

Disciplines

Biology

Recommended Citation

Vanterpool, Elaine and Harris, Ethan, "An Analysis of DGUOK Variants Associated with Mitochondrial DNA Depletion Syndrome" (2025). Student Posters. 93.
https://ouscholars.oakwood.edu/student-posters/93