Presenter(s)
Madeline M. Thoemke, Early-Year Research Presenter
Abstract
One of the most common types of mutations is point mutations, which change a single amino acid, sometimes by changing a single nucleotide. These mutations can cause the protein to fold incorrectly or change how it interacts with other molecules. This research used biochemistry methods to prepare mutated proteins to simulate their behavior in the body. Mutations in the protein VRK1 were chosen for this project. VRK1 is present in human tissues and influences cellular division and RNA processing.VRK1 mutations P79L, A66G, and R219Ihave been linked to neurological disorders and were chosen for this project. Our procedure used biochemistry techniques and the Quikchange Lighting site-directed mutagenesis kit to mutate a plasmid used to prepare recombinant mutant proteins. Other research has shown that these mutations can have harmful effects on health, such as the P79L mutation leading to developmental delay[1], or the A66G mutation leading to muscular atrophy[2].Future studies with these mutant proteins may provide insight into how these genetic disorders are caused, potentially leading to new treatment options. References 1. Lazo, P. A.; Morejón-García, P. (2023). VRK1 variants at the Cross Road of Cajal body neuropathogenic mechanisms in distal neuropathies and motor neuron diseases. Neurobiology of Disease,183, 106172.https://doi.org/10.1016/j.nbd.2023.106172 2. Link, N.; Chung, H., et. al. (2019). Mutations in Ankle2, a zika virus target, disrupt an asymmetric cell division pathway in drosophila neuroblasts to cause microcephaly. Developmental Cell,51(6). https://doi.org/10.1016/j.devcel.2019.10.009
College
College of Science & Engineering
Department
Chemistry
Campus
Winona
First Advisor/Mentor
Emily Ruff
Location
Ballroom - Kryzsko Commons
Start Date
4-18-2024 10:00 AM
End Date
4-18-2024 11:00 AM
Presentation Type
Poster Session - Early-Year RCA
Format of Presentation or Performance
In-Person
Session
1b=10am-11am
Poster Number
6
Included in
Making Mutations in a VRK1 Plasmid
Ballroom - Kryzsko Commons
One of the most common types of mutations is point mutations, which change a single amino acid, sometimes by changing a single nucleotide. These mutations can cause the protein to fold incorrectly or change how it interacts with other molecules. This research used biochemistry methods to prepare mutated proteins to simulate their behavior in the body. Mutations in the protein VRK1 were chosen for this project. VRK1 is present in human tissues and influences cellular division and RNA processing.VRK1 mutations P79L, A66G, and R219Ihave been linked to neurological disorders and were chosen for this project. Our procedure used biochemistry techniques and the Quikchange Lighting site-directed mutagenesis kit to mutate a plasmid used to prepare recombinant mutant proteins. Other research has shown that these mutations can have harmful effects on health, such as the P79L mutation leading to developmental delay[1], or the A66G mutation leading to muscular atrophy[2].Future studies with these mutant proteins may provide insight into how these genetic disorders are caused, potentially leading to new treatment options. References 1. Lazo, P. A.; Morejón-García, P. (2023). VRK1 variants at the Cross Road of Cajal body neuropathogenic mechanisms in distal neuropathies and motor neuron diseases. Neurobiology of Disease,183, 106172.https://doi.org/10.1016/j.nbd.2023.106172 2. Link, N.; Chung, H., et. al. (2019). Mutations in Ankle2, a zika virus target, disrupt an asymmetric cell division pathway in drosophila neuroblasts to cause microcephaly. Developmental Cell,51(6). https://doi.org/10.1016/j.devcel.2019.10.009
