PUBLICATION
Modelling amyotrophic lateral sclerosis: progress and possibilities
- Authors
- Van Damme, P., Robberecht, W., Van Den Bosch, L.
- ID
- ZDB-PUB-170505-7
- Date
- 2017
- Source
- Disease models & mechanisms 10: 537-549 (Review)
- Registered Authors
- Keywords
- C. elegans, Fruit fly, Motor neuron, Neurodegeneration, Zebrafish, iPSCs
- MeSH Terms
-
- Amyotrophic Lateral Sclerosis/genetics
- Amyotrophic Lateral Sclerosis/pathology*
- Animals
- Disease Models, Animal*
- Genetic Predisposition to Disease
- Humans
- Mutation
- PubMed
- 28468939 Full text @ Dis. Model. Mech.
Citation
Van Damme, P., Robberecht, W., Van Den Bosch, L. (2017) Modelling amyotrophic lateral sclerosis: progress and possibilities. Disease models & mechanisms. 10:537-549.
Abstract
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that primarily affects the motor system and presents with progressive muscle weakness. Most patients survive for only 2-5 years after disease onset, often due to failure of the respiratory muscles. ALS is a familial disease in ∼10% of patients, with the remaining 90% developing sporadic ALS. Over the past decade, major advances have been made in our understanding of the genetics and neuropathology of ALS. To date, around 20 genes are associated with ALS, with the most common causes of typical ALS associated with mutations in SOD1, TARDBP, FUS and C9orf72 Advances in our understanding of the genetic basis of ALS have led to the creation of different models of this disease. The molecular pathways that have emerged from these systems are more heterogeneous than previously anticipated, ranging from protein aggregation and defects in multiple key cellular processes in neurons, to dysfunction of surrounding non-neuronal cells. Here, we review the different model systems used to study ALS and discuss how they have contributed to our current knowledge of ALS disease mechanisms. A better understanding of emerging disease pathways, the detrimental effects of the various gene mutations and the causes underlying motor neuron denegation in sporadic ALS will accelerate progress in the development of novel treatments.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping