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Event Detail Information

Event Detail Information

Anatomy and Cell Biology: "Genetic Cerebellar degeneration: In search of a cure"

Speaker Puneet Opal, MD, PhD, Feinberg School of Medicine, Northwestern University
Date Nov 6, 2012
Time 12:30 pm - 1:30 pm  
Location 808 S. Wood Str., Room 578
Sponsor Presented by the Anatomy and Cell Biology
Views 201
Originating Calendar CCTS Events

Title: "Genetic Cerebellar degeneration: In search of a cure"

Speaker: Puneet Opal, MD, PhD, Feinberg School of Medicine, Northwestern University

Host: Dr. Xao Tang

A number of genetic neurodegenerative diseases afflict the cerebellum causing adult-onset, progressive degeneration. Spinocerebellar ataxia type 1 (SCA1) is one such disease, inherited in autosomal dominant manner, and resulting from an expansion of a glutamine repeat tract in the protein ataxin-1 (ATXN1). Although we still do not have a comprehensive view of its functions, ATXN1 seems to be involved in transcriptional repression. We have discovered that mutant ATXN1 represses transcription of the neurotrophic and angiogenic factor vascular endothelial growth factor (VEGF). Remarkably from a translational perspective, genetic over expression or pharmacologic delivery of VEGF mitigates SCA1 pathogenesis in SCA1 mice, suggesting a completely novel therapeutic strategy for this incurable disease.

 

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