SLA, identified one of the mechanisms that triggers neurodegeneration

Amyotrophic lateral sclerosis (SLA) is a neurodegenerative disease that affects motor neurons, the cells that control voluntary muscle movement. SLA is fatal and there is currently no cure. However, new research has identified one of the mechanisms that triggers neurodegeneration in SLA. This finding could lead to new treatments for SLA.

The study, published in the journal Nature Neuroscience, found that a protein called TDP-43 is mislocalized in the brains of people with SLA. TDP-43 is normally found in the nucleus of cells, but in people with SLA, it is found in the cytoplasm, the fluid that fills the cell. This mislocalization of TDP-43 leads to the formation of protein aggregates, which are toxic to neurons.

The researchers found that the mislocalization of TDP-43 is caused by a mutation in a gene called C9orf72. This mutation is the most common genetic cause of SLA. The researchers believe that the mutation in C9orf72 leads to a decrease in the production of a protein called hnRNP A1. hnRNP A1 is a protein that binds to TDP-43 and helps to keep it in the nucleus. Without hnRNP A1, TDP-43 is mislocalized to the cytoplasm, where it forms protein aggregates and triggers neurodegeneration.

This finding could lead to new treatments for SLA. One potential treatment strategy would be to increase the production of hnRNP A1. Another potential treatment strategy would be to develop drugs that prevent the mislocalization of TDP-43.

Conclusion

This study is an important step forward in our understanding of SLA. The identification of one of the mechanisms that triggers neurodegeneration in SLA could lead to new treatments for this devastating disease.