Dr. Julia Oxford
Wiedemann-Rautenstrauch syndrome is a genetic condition that is a type of progeria, characterized by premature aging. Wiedemann-Rautenstrauch syndrome is a rare disorder with only three dozen cases since its first diagnosis in 1979. The syndrome is the result of a mutation within POLR3A gene that is responsible for the coding of the large subunit of RNA polymerase III. Mutation to this gene leads to the production of abnormal proteins systems resulting in a faulty RNA polymerase III. How the mutations in the POLR3A gene cause the observable symptoms of Wiedemann-Rautenstrauch syndrome is currently under investigation. The condition itself displays as an inherited autosomal recessive pattern, indicating that both copies of the gene in each cell are affected. Current treatment is directed toward the specific symptoms that are apparent in each individual and often requires a team of specialists due to its diverse nature. We will present the molecular mechanism and developmental progression of Wiedemann-Rautenstrauch syndrome as well as potential therapeutic targets for treatment.
Miller, Maddie; Cram, Austin; Hart, Jacob; and Oxford, Julia, "Wiedemann-Rautenstrauch Syndrome: A Brief Synopsis" (2020). 2020 Undergraduate Research Showcase. 34.