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Scientific progress

29 - 05 - 2018

The origin of amyotrophic lateral sclerosis

In vitro studies in human cells have revealed a change responsible ALS. Animal models of ALS have reproduced this anomaly.
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Amyotrophic lateral sclerosis (ALS) or Charcot disease is a serious and disabling condition that causes progressive paralysis due to progressive and irreversible degeneration of motor neurons.
 
The mutations responsible for familial ALS (10% of ALS cases) is involved in the regulation of RNA activity in motor neurons, and thus the production of proteins.
 
To better understand these mutations, researchers compared in vitro the transformation of pluripotent stem cells (iPSCs) into motor neurons, in healthy individuals and in patients with familial ALS.

 

 

 


 
They discovered that the main change in these cells from different patients was the premature appearance of a mechanism called intron retention. This mechanism causes a decrease in the presence of the SFPQ protein in the nucleus of the sick cells.
 
The researchers verified that the loss of SFPQ protein was found in mouse models of familial ALS.
 
They then sought out and found that the loss of this protein was also present in cases of sporadic ALS (90% of ALS cases) either in the cells or tissues of post-mortem patients or in the mouse model.
 
This work therefore seems to have uncovered an important molecular marker of ALS whether familial or sporadic. The in vitro and in vivo models have been validated, which will possibly on day help monitor the onset of the disease.

 

https://www.crick.ac.uk/news/2018-05-25-scientific-dream-team-shed-light-on-motor-neuron-death

https://www.nature.com/articles/s41467-018-04373-8