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Department of Biological Sciences

Dr. Sofia Lizarraga and her lab members Mara Cowen and Paul Brito Vargas published a new study in Science Translational Medicine

Mutations in the gene encoding the endosomal Na+/H+ exchanger 6 (NHE6) cause Christianson syndrome (CS), a neurological disease associated with reduced brain growth, epilepsy, and impaired cognitive abilities. To understand the mechanisms involved in disease pathophysiology and to identify potential treatments, Dr. Sofia Lizarraga, Assitant Professor in our Department, and her collaborators including her former undergraduate student Mara Cowen and technician Paul Brito Vargas, used five induced pluripotent stem cell lines from patients with CS harboring different mutations. All mutations lead to the loss of protein function, with one of them having both loss-of-function and dominant-negative activities. Gene therapy was shown to rescue cellular abnormalities in a mutation-specific fashion, while administration of exogenous trophic factors was effective in all the lines examined. Learn more about this exciting work here!

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