iPSC-Based Models to Unravel Key Pathogenetic Processes Underlying Motor Neuron Disease DevelopmentReport as inadecuate




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Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation DEPT, University of Milan, Neurology Unit, IRCCS Foundation CaGranda Ospedale Maggiore Policlinico, via Francesco Sforza 35, 20122 Milan, Italy



These authors equally contributed to this work.





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Abstract Motor neuron diseases MNDs are neuromuscular disorders affecting rather exclusively upper motor neurons UMNs and-or lower motor neurons LMNs. The clinical phenotype is characterized by muscular weakness and atrophy leading to paralysis and almost invariably death due to respiratory failure. Adult MNDs include sporadic and familial amyotrophic lateral sclerosis sALS-fALS, while the most common infantile MND is represented by spinal muscular atrophy SMA. No effective treatment is ccurrently available for MNDs, as for the vast majority of neurodegenerative disorders, and cures are limited to supportive care and symptom relief. The lack of a deep understanding of MND pathogenesis accounts for the difficulties in finding a cure, together with the scarcity of reliable in vitro models. Recent progresses in stem cell field, in particular in the generation of induced Pluripotent Stem Cells iPSCs has made possible for the first time obtaining substantial amounts of human cells to recapitulate in vitro some of the key pathogenetic processes underlying MNDs. In the present review, recently published studies involving the use of iPSCs to unravel aspects of ALS and SMA pathogenesis are discussed with an overview of their implications in the process of finding a cure for these still orphan disorders. View Full-Text

Keywords: induced pluripotent stem cells; amyotrophic lateral sclerosis; spinal muscular atrophy; disease modeling induced pluripotent stem cells; amyotrophic lateral sclerosis; spinal muscular atrophy; disease modeling





Author: Irene Faravelli †, Emanuele Frattini †, Agnese Ramirez, Giulia Stuppia, Monica Nizzardo and Stefania Corti *

Source: http://mdpi.com/



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