Mechanistic Insight into Tandem Repeat Expansions in Amyotrophic Lateral Sclerosis

Описание: Presented By: Paul Valdmanis, PhD

Speaker Biography: Paul Valdmanis is an Assistant Professor in the Division of Medical Genetics in the Department of Medicine at the University of Washington. The Valdmanis lab seeks identify novel genetic contributions to neurodegenerative disease and correct these variants through gene therapy approaches. Dr. Valdmanis has made several key genetic discoveries including the first identification of mutations in TARDBP (TDP-43) in patients with Amyotrophic Lateral Sclerosis (ALS), in WASHC5 (Strumpellin) in patients with Hereditary Spastic Paraplegia, and in RNF170 in a novel form of Autosomal Dominant Sensory Ataxia during his PhD training at McGill University in Montreal, Canada.

Webinar: Mechanistic Insight into Tandem Repeat Expansions in Amyotrophic Lateral Sclerosis

Webinar Abstract: Over 40 tandem repeats undergo expansion events that lead to neurological disease. This number is likely an underestimate as many repeats are difficult to amplify using existing short read sequencing approaches. Through the use of long-read sequencing, we identified a 69 bp intronic variable number tandem repeat (VNTR) in WD repeat domain 7 (WDR7). The VNTR is expanded in a family with Amyotrophic Lateral Sclerosis (ALS) and exhibits significantly higher repeat copy number in three independent cohorts of individuals with sporadic ALS compared with matched controls, suggesting that it plays a role in modifying susceptibility to ALS. Each 69 bp repeat motif forms a stem-loop structure with the potential to produce microRNAs, and the repeat RNA can aggregate when expressed in cells – a common hallmark of neurodegenerative disease pathology.

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