Investigation of Salla Disease Gene Involvement using C. e... | Elizabeth Fritz-Kent | RRS Live 2024 скачать в хорошем качестве

Investigation of Salla Disease Gene Involvement using C. e... | Elizabeth Fritz-Kent | RRS Live 2024

Elizabeth Fritz-Kent is a Sophomore Microbiology major in the Randall Research Scholars Program (RRSP). Their research project presentation, "Investigation of Salla Disease Gene Involvement using C. elegans Epilepsy Model," was completed under the advisement of Dr. Kim Caldwell from the Biological Sciences Department. Project Description: The human SLC17A5 gene encodes a proton-coupled transporter protein, Sialin. The diseases associated with gene mutations are autosomal recessive neurodegenerative disorders manifesting either as a severe infantile sialic acid storage disorder leading to early childhood lethality, or as Salla disease, a milder, slowly progressive adult form characterized by intellectual disability, epilepsy, and neurodegeneration. This project aims to model two prominent symptoms associated with Salla disease, epilepsy and neurodegeneration, using the model organism Caenorhabditis elegans (C. elegans). C. elegans is used because the worms have similar, conserved genes to Sialin, worm gene slc-17.2, and we can make similar mutations in it. Additionally, known human interacting genes are conserved in C. elegans. Overall, the goal is to see if mutations in the slc-17.2 gene and predicted interactors impact the nervous system as shown through epileptic-like seizure assay, utilizing the chemical PTZ to induce epileptic-like seizures in C. elegans.