Scientists have uncovered how a newly discovered gene, NEK1, in which mutations have been linked to ALS cases, disrupts the function of the motor neuron and causes it to degenerate and die.
The viral ALS Ice Bucket Challenge a few years ago raised major funding that resulted in the discovery of new genes connected to the disease. One of those genes is NEK1, in which mutations have been linked to as much as 2% of all ALS cases, making it one of the top-known causes of the disease.
The investigators found the mutation causes two problems in the neuron. The first is that it causes the structures supporting the axon in the neuron to become less stable and susceptible to collapsing. "Our discovery -- of the same destructive mechanisms in other genetic forms of ALS -- leads us to believe this is the same disease," Kiskinis said."This new awareness is critical to developing treatments and for designing optimal clinical trials targeting specific ALS patient populations.
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