Rewind to the summer of 2014 when people started dumping buckets of ice water on their heads to raise awareness and money for the ALS Association. It was a good time right? My favorite was Benedict Cumberbatch's:
But critics of the challenge said that it wasn’t really doing much for raising funds, although I think it did a wonderful job at raising awareness. Well fast forward back to right now, it seems that the funds raised from the ALS Ice Bucket Challenge were put to a major breakthrough in understanding the disease.
Through a massive gene sequencing effort, in which 15,000 (of that number 1,000 families in the US participated) people diagnosed with ALS were sequenced. People from 11 countries participated and contributions from 80 researchers were compiled. And the data reveals a mutation in the NEK1 gene appears in 3% of patients where ALS was genetically passed down, and where ALS occurred sporadically. This is a great that discovery, which leads us one step closer to a cure.
Just as a refresher Amyotrophic lateral sclerosis (ALS or Lou Gehrigs’s Disease) is a neurodegenerative disease that affects nerve cells in the spinal cord and brain. It is a progressive disease, so as time goes on it gets worse and there is no cure. These nerve cells are responsible for controlling the muscles throughout our bodies. Early signs of the disease are muscle cramps and twitching, muscles weakness in hands/legs/feet and difficulty speaking or swallowing. In addition, most people with ALS only live 2-5 years after the first signs of the disease. In the late stages of ALS the person becomes paralyzed and unable to talk (although the five senses are not affected).
The NEK1 gene is involved in nerve shape (AKA the cytoskeleton) and promotes transport within the neuron. It also controls mitochondrial membranes that send energy to the neuron and repairs DNA. So naturally a change in those functions would lead to an increased risk of neuronal degradation (ALS).
Right now scientists are not sure if just the presence of the gene leads to ALS or if just changes to the NEK1 gene lead to ALS or if changes in NEK1 combined with changes in other genes lead to ALS. So there are still a good amount of unknowns. However, there is a new study going on with mice to see how loss in NEK1 will affect ALS progression.
Once again the ALS Association has enacted a new PR campaign aimed to raise money for continued research with the NEK1 discovery. This time it is called “Every Drop Adds Up” which refers back to the Ice Bucket Challenge, but doesn’t try to resurrect it.
As with other genetic diseases, scientists are getting closer and closer to understanding the causes and then one day developing and effective cure. If you would like to donate to the ALS Association, click on this.
