Ice bucket challenge funds breakthrough for ALS sufferers as new gene NEK1 is found


The viral ice bucket challenge of 2014 has funded an important scientific discovery, as new gene NEK1 has been identified, said the ALS Association.

ALS, also known as motor neurone disease, is a progressive neurodegenerative disease, where sufferers lose the ability to initiate and control muscle movement and end up paralysed.

In the summer of 2014, people throwing buckets of ice water over their heads raised more than $100 million for the charity.

That money was used in research by Project MinE, which looked into inherited ALS by searching for ALS risk genes in families affected by the disease.

The search included more than 80 researchers in 11 countries, and resulted in the identification of the NEK1 gene, one of the most common genes that contributes to ALS.

NEK1 has multiple functions in brain cells, for example maintaining the neuron’s cytoskeleton and regulating the membrane of the mitochondrion, which is the machine that supplies energy to brain cells and helps repair damaged DNA.

All of these cell functions have been found to contribute to ALS in some way, and a link has been found between mutations in NEK1 and ALS.

“The discovery of NEK1 highlights the value of ‘big data’ in ALS research,” said Lucie Bruijn of the ALS Association.

“The sophisticated gene analysis that led to this finding was only possible because of the large number of ALS samples available,” she said.

“The ALS Ice Bucket Challenge enabled The ALS Association to invest in Project MinE’s work to create large biorepositories of ALS biosamples that are designed to allow exactly this kind of research and to produce exactly this kind of result.”

Though only 10% of ALS cases are familial, and 90% of cases are sporadic, it is believed that genetics play a part in a much larger percentage of cases than just those passed down through families.

It is hoped that the discovery will help in the development of drugs for the disease.


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