Rare Disease Report

Ice Bucket Rewards - NEK1 Mutation Linked to ALS

JULY 25, 2016
James Radke and Andrew Black
Remember the ice bucket challenge and the announcement that millions of dollars were going towards research?  Those investments are already starting to pay off.
 
Using money from the ALS Ice Bucket Challenge in 2014, The ALS Association contributed $1 million dollars to Project MinE to help spur the US arm of this global initiative, led by Dr. John Landers at University of Massachusetts Medical School and Dr. Jonathan Glass at Emory University.
 
And now researchers from Project MinE have identified a gene –NEK1—that is linked to ALS.  In a letter to Nature Genetics, Kenna et al noted a significant association between loss-of-function NEK1 variants and risk of familial ALS.
 
Although familial ALS accounts for only 10% of ALS cases, the finding of the NEK1 variants could provide clues to treating, or at least understanding, both familial and sporadic ALS. 
 
Project MinE is the brainchild of ALS patient (and entrepreneur) Bernard Muller. In a news release, Muller said, “The ALS Ice Bucket Challenge enabled us to secure funding from new sources in new parts of the world. Thankfully, The ALS Association brought Project MinE to the United States. This transatlantic collaboration supports our global gene hunt to identify the genetic drivers of ALS. I’m incredibly pleased with the discovery of the NEK1 gene adding another step towards our ultimate goal, eradicating this disease from the face of the earth.”
 
Since the big splash that the ice bucket challenge made, August is now known as a primary month for donating to ALS research. To find out more or to donate, click here.

About NEK1

Nek1 has multiple roles in neurons including maintaining the neurons cytoskeleton. Nek1 is known to regulate the membrane of the mitochondrion. While looking at NEK1’s different roles and seeing that these cell functions have been discovered to contribute to ALS in some way or another, the association between mutations in NEK1 and ALS are now confirmed.

About ALS

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a progressive neurodegenerative disorder that that afflicts 4 to 8 per 100,000 people. Each year, approximately 5,000 people in the United States are diagnosed with the condition.

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