Ice Bucket Challenge Donations Help Discovery of New ALS Gene

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Two years ago, the world rallied together challenging their friends on social media to pour a bucket of ice over their heads and donate to the ALS Association. It’s said that due to this viral trend, the foundation raised over $21.7 million for its organization and was able to discover a new gene linked to ALS (amyotrophic lateral sclerosis, also known as Lou Gehrig’s disease).

The ALS Association spread the money across six organizations researching about the debilitating disease. University of Massachusetts Medical School’s Project MineE, discovered the NEK1 gene after the largest study ever conducted on genes and ALS.

The project had over 80 researchers collaborating from 11 countries, with its main laboratories at the University of Massachusetts Medical School and University Medical Center Utrecht in The Netherlands. In order to discover this gene, they sequenced the genomes of more than 15,000 people with ALS and 1,000 families that are known to have ALS in them. [1]

Variations in a gene that has multiple functions within its neuron is present in at least 3% of cases of people with ALS in North America and Europe, both genetic and sporadically. While 90 percent of ALS cases occur sporadically, meaning they are not genetic, scientists still believe that genes may play a role in acquiring the devastating disease.

The New York Daily News explained how the NEK1 gene works:

“This newly discovered gene (pronounced as “neck-one”) plays many roles in neurons — the nerve cells that are the building blocks of our nervous system, which includes the brain and spinal cord and coordinates our movements.

NEK1 maintains the cytoskeleton that shapes the neuron, and promotes transport within the neuron. NEK1 also regulates the membranes of the mitochondrion that supplies energy to neurons and repairs DNA. And the disruption of these vital cellular functions has been linked to an increased risk of ALS.”

ALS, or Lou Gehrig’s Disease, is a degenerative disease in which the affected individual’s brain cells and spinal cord cells become progressively damaged. Eventually, it leads to total paralysis before death. Currently, there is no known, accepted treatment, but thanks to the discovery of the new gene, scientists can now experiment with up and coming therapies which may one day lead to the eradication of it completely.

Sources:

[1] Science Daily

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