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 language | English |
|---|---|
| Pages (from-to) | 1124-1145 |
| Number of pages | 22 |
| Journal | Journal of Clinical Medicine |
| Volume | 3 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Oct 17 2014 |
Fingerprint
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 journal › Review article
}
TY - JOUR
T1 - iPSC-based models to unravel key pathogenetic processes underlying motor neuron disease development
AU - Faravelli, Irene
AU - Frattini, Emanuele
AU - Ramirez, Agnese
AU - Stuppia, Giulia
AU - Nizzardo, Monica
AU - Corti, Stefania
PY - 2014/10/17
Y1 - 2014/10/17
N2 - 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.
AB - 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.
KW - Amyotrophic lateral sclerosis
KW - Disease modeling
KW - Induced pluripotent stem cells
KW - Spinal muscular atrophy
UR - http://www.scopus.com/inward/record.url?scp=85000774166&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85000774166&partnerID=8YFLogxK
U2 - 10.3390/jcm3041124
DO - 10.3390/jcm3041124
M3 - Review article
VL - 3
SP - 1124
EP - 1145
JO - Journal of Clinical Medicine
JF - Journal of Clinical Medicine
SN - 2077-0383
IS - 4
ER -