iPSC-based models to unravel key pathogenetic processes underlying motor neuron disease development

Irene Faravelli, Emanuele Frattini, Agnese Ramirez, Giulia Stuppia, Monica Nizzardo, Stefania Corti

Research output: Contribution to journalReview article

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.

Original languageEnglish
Pages (from-to)1124-1145
Number of pages22
JournalJournal of Clinical Medicine
Volume3
Issue number4
DOIs
Publication statusPublished - Oct 17 2014

Fingerprint

Induced Pluripotent Stem Cells
Motor Neuron Disease
Spinal Muscular Atrophy
Motor Neurons
Orphaned Children
Muscular Atrophy
Muscle Weakness
Paralysis
Respiratory Insufficiency
Neurodegenerative Diseases
Stem Cells
Phenotype

Keywords

  • Amyotrophic lateral sclerosis
  • Disease modeling
  • Induced pluripotent stem cells
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Medicine(all)

Cite this

iPSC-based models to unravel key pathogenetic processes underlying motor neuron disease development. / Faravelli, Irene; Frattini, Emanuele; Ramirez, Agnese; Stuppia, Giulia; Nizzardo, Monica; Corti, Stefania.

In: Journal of Clinical Medicine, Vol. 3, No. 4, 17.10.2014, p. 1124-1145.

Research output: Contribution to journalReview article

Faravelli, Irene ; Frattini, Emanuele ; Ramirez, Agnese ; Stuppia, Giulia ; Nizzardo, Monica ; Corti, Stefania. / iPSC-based models to unravel key pathogenetic processes underlying motor neuron disease development. In: Journal of Clinical Medicine. 2014 ; Vol. 3, No. 4. pp. 1124-1145.
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