Skip to Content
Office: 2100 RCPIowa City, IA 52242 Phone: Email: pedro-gonzalez-alegre@uiowa.edu
Web: Lab Website
MD, University of Malaga Medical School, Malaga, Spain, Residency, Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, Internship, St. Vincent Hospital, Worcester, MA, Fellowship, Movement Disorders, University of Iowa Hospitals and Clinics, Iowa City, IA,
Primary: Neurology
Biological basis of basal ganglia diseases, especially dystonia, Molecular basis of neurodegeneration, Role of AAA proteins in neurological disease
Dr. Gonzalez-Alegre's research aims to understand the biological basis of neurological disorders caused by dysfunction of the basal ganglia, and to develop novel therapies for this group of neurological diseases. Currently, studies focus on a disease known as DYT1 dystonia, the most common form of inherited dystonia. DYT1 dystonia, a dominantly inherited, incurable disease, is caused by a three-nucleotide deletion in the gene TOR1A that causes the loss of a glutamic acid in the protein torsinA, a AAA protein (ATPases Associated with diverse cellular Activities) that resides primarily in the endoplasmic reticulum. However, torsinA carrying the disease-causing mutation accumulates in the nuclear envelope. Analyses of dominant negative mutants suggest that torsinA normally functions within the perinuclear space of the nuclear envelope. In addition to torsinA, the mammalian torsin family of proteins includes torsinB, torsin-related protein 2A (torp2A) and torp3A. Over the next few years, my research will focus on DYT1 dystonia through three major projects: 1) Defining the biological role of torsinA in the nuclear envelope; 2) Characterize the expression and functional properties of the torsin gene family; 3) Development of therapeutic RNAi interference for DYT1 dystonia. Understanding the pathobiology underlying DYT1 dystonia could help us understand the biological basis for other forms of dystonia and the growing list of nuclear envelope-related human diseases, as well as reveal fundamental biological issues in nuclear envelope function and functional organization of the basal ganglia. In addition, these studies will contribute to exploit RNA interference as a therapy for DYT1 dystonia and other incurable neurological diseases.