Author : Inmaculada Sanjuan Ruiz
Publisher :
ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.:/5 (117 download)
Book Synopsis Pathophysiological Mechanisms Involved in Amyotrophic Lateral Sclerosis Caused by Mutations in the FUS Gene by : Inmaculada Sanjuan Ruiz
Download or read book Pathophysiological Mechanisms Involved in Amyotrophic Lateral Sclerosis Caused by Mutations in the FUS Gene written by Inmaculada Sanjuan Ruiz and published by . This book was released on 2019 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two untreatable neurodegenerative diseases. Even thought they are two distinctive diseases, they share a series of clinical, genetic and histological hallmarks, thus defining the ALS-FTD continuum. Mutations in the FUS gene have been linked with ALS, whereas alterations in FUS proteins have been detected in FTD patients. Both diseases are characterized by the presence of cytosolic FUS aggregates.We have studied the autoregulation mechanisms of FUS in a mouse model via de activation of an alternative splicing pathway by the insertion of a human wild-type FUS transgene, which has allowed us to potentially elucidate new therapeutic approaches by gene therapy. Furthermore, our mice develop FTD-like symptoms. Our results suggest an alteration in cortical synapses which could originate the observed cognitive and behavioural deficits, accompanied by alterations in the cholinergic system.