Summer 2007: A cause of Angelmans syndrome, a form of mental retardation, in terms of Ubiquitin Protein Ligase 3A (UBE3A) expression’s impact on resistance to genotoxic stressors

By Devorah Donnell

Through the UConn Medical School’s Summer Research Fellowship Program, I conducted stem cell research in the summer of 2007 in Dr. Lalande’s laboratory in the department of Genetics and Developmental Biology at the UConn Health Center. I studied a cause of Angelmans syndrome, a form of mental retardation, in terms of Ubiquitin Protein Ligase 3A (UBE3A) expression’s impact on resistance to genotoxic stressors.

With my own research project, I independently cultured stem cell lines. Some lines were altered to reflect cells found in Angelmans syndrome patients, while others served as control lines. Once the cells were at the necessary degree of maturation, I exposed them to chemicals serving as genotoxic stressors. I then used flow cytometry and other techniques to assess the survival rates of each stem cell line. My research examined whether resistance to chemical stressors allowed the altered cells to remain and be expressed in the developing fetus as Angelmans syndrome.

Through this exciting opportunity I learned a lot about Angelmans syndrome, stem cells, cell culture, and other laboratory techniques.

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