Lessons From Four-Legged Patients: What Mouse Models Can Tell Us About Human Genetic Diseases
|Date(s)|| 04/07/2014 - 4:00 p.m.
|Location||Donahue Auditorium, Gordon Science Center|
|Presenter||Mira Krendel, Ph.D., Assistant Professor, Dept. Cell and Developmental Biology, SUNY Upstate Medical University|
|Description|| Lessons From Four-Legged Patients:
What Mouse Models Can Tell Us About Human Genetic Diseases
Mouse models can be used to test whether the loss of function of a specific gene results in disease. Using a knockout mouse model, we discovered that the loss of a cytoskeletal protein, myosin 1e (myo1e), leads to kidney disease in mice, which led us to predict that mutations in the MYO1E gene in humans may cause familial kidney disorders. As predicted, several families with mutations in MYO1E and associated kidney disease have been identified in clinical genetic studies. Mutations in the human MYO1E gene disrupt domains important for Myo1e functions in cells, leading to defects in protein filtration and subsequent kidney failure. Our lab is investigating the role of myo1e in the assembly and maintenance of the renal filtration barrier and the effects that disease-associated mutations have on myo1e activity.
The Asa Gray Seminar Series is sponsored by the Asa Gray Biological Society, and is the longest running seminar series at Utica College. Scientists are invited from throughout the region to present seminars on their ongoing research. All lectures are held in Donahue Auditorium, Gordon Science Center, at 4:00 p.m. An informal reception immediately follows. Call (315) 792-3028 for more information.
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