Protein Profiling and Functional Evaluation of Cockayne Syndrome: Implications for Understanding Alzheimer’s Disease

Audrey Daugherty

Authors:  Audrey Daugherty, Alec Reeber, Madhurima Saha, Skylar Rizzo, Natalie Weiner, Alan Lehmann, Silveli Suzuki-Hatano, Peter B. Kang, Christina A. Pacak

Faculty Mentor: Dr. Christina A. Pacak

College:  College of Medicine


Cockayne Syndrome (CS) is a rare, autosomal recessive, neurodegenerative disorder characterized by growth defects, cognitive disability, and deficiencies which contribute to an overall presentation of premature aging (including dementia) in patients. This autosomal recessive disease is characterized by an inability to repair DNA, when editing is necessary, during normal DNA replication and transcription. Using a healthy control and CS patient derived fibroblast cells, as well as a stable isotope protein labeling method, we performed a protein-based analysis of the disease. This enabled direct comparisons between the expression levels of proteins in CS and healthy controls. Our analysis revealed dramatic parallels between how proteins are expressed in CS and how these proteins have been previously shown to be associated with Alzheimer’s disease (AD). The majority of these proteins are thought to be involved in both mitochondrial dysfunction and the upregulation of glycolysis. They are also involved in the handling of misfolded proteins, which has dire consequences in neurons and manifests as Alzheimer’s type dementia. Preliminary functional characterizations in CS and AD cells have further confirmed novel similarities between the two disorders, which would allow for the design of therapies aimed at treating common effectors for both diseases.

Poster Pitch

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11 Responses
    1. Audrey Daugherty

      Thank you so much, hopefully this I will be able to gather a lot of my data and really conclude this project!

  1. Julia Volpi

    Hi Audrey! You did an amazing job on your poster and your presentation! What made you decide to do research on this topic?

    1. Audrey Daugherty

      Thank you! I was always interested in pediatrics and the lab I’m in is researching these rare diseases found in children! This led to another part of my interests which is aging as well as Alzheimer’s, since so little is known about it!

  2. Jada Lewis

    Email me if you want to access to tissue from both humans with AD and mice that model various aspects of Alzheimer’s disease and related dementias. The Center for Translational Research in Neurodegenerative Disease here has everything you might want and we love to collaborate.

    1. Audrey Daugherty

      This would be an awesome collaboration for future work! Thank you, I will contact you!