ALS hypothesis is confirmed

04 May 2016

Swedish Brain researchers at Umeå University has long worked for the hypothesis that people with the disease ALS (amyotrophic lateral sclerosis) may have a genetic mutation that makes the protein SOD1 weeks itself and clumps in the brain and the spinal cords motor neurons. Now their hypothesis is confirmed in a study on mice.


– The results show that the formation of protein clumps appear to play a central role in the development of the disease, says the Swedish Brain Power researcher Professor Stefan Marklund.


The fact that the long amino acid chains, that usually folds into functioning SOD1 protein, may clump nerve cells in patients with ALS is already known, but it has been unclear what role protein clumps play in the development of the disease in people with hereditary predisposition to ALS. In a study on mice, researchers have now shown that the pathological lumps sets off a domino effect that quickly spread disease progression up through the spinal cord. The researchers suspect that this may also be the case for humans.


Stefan Marklund Foto: Mattias Pettersson

Stefan Marklund
Foto: Mattias Pettersson

– More research is needed, but it is hoped that we can find ways to prevent or stop the deadly disease progression in people who carry the genetic predisposition to ALS, says Stefan Marklund.







The study has been published in the Journal of Clinical Investigation and co-author is another Swedish Brain Power-researcher Professor Peter M Andersen.


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