Every Drop Adds Up: Ice Bucket Challenge Update: Ice Bucket Donations Help Identify New ALS Gene

Published: September 21st, 2016

Category: UAD Student Blog


als

 

The summer of 2016 brought some exciting news to the Amyotrophic Lateral Sclerosis

(ALS) community and all those affected by the progressive neurodegenerative disease. Researchers from Project MinE, a large international ‘big data’ initiative funded by The ALS Association through ALS Ice Bucket Challenge donations, as well as The ALS Association Georgia Chapter, The ALS Association Greater New York Chapter and New Amsterdam City Swim, shared that they have identified a new gene known as NEK1, a leading genetic contributor to ALS.

It is known that a small percentage of ALS cases are familial while the most common form of the disease is sporadic (90-95% of all cases), without a family history. Although not yet supported by research, it is believed that genetics contribute, directly or indirectly, to a much larger percentage of all ALS cases. The link of NEK1 to both sporadic and familial ALS gives scientists a new target for drug development.

Previous research has revealed that NEK1 functions in multiple roles in the neurons of the brain including maintenance of the neuron’s cytoskeleton, which is responsible for the transport of molecules, as well as regulating the membrane of the mitochondrion, which serves as an energy source for neurons and helps repair damaged DNA. All of these cell functions have contributed to ALS in some way, confirming the association between NEK1 mutations and ALS.

The discovery of NEK1 is significant in ALS research. The large number of ALS samples collected and made available by researchers by Project MinE led to gene analysis, and the eventual discovery of the correlation between NEK1 and ALS. The discovery was a collaboration of over 80 researchers in 11 countries. Moving forward, researchers will develop a novel NEK1-associated disease mouse model for further investigation of the role of NEK1 in ALS disease. It is believed that the discovery of NEK1 could eventually mean that treatments will not be limited to one subset of people with ALS, but that it could potentially target a broader group.

References: 

ALS Association. Breaking Research News: Largest Ever Study of Inherited ALS Identifies New ALS Gene NEK1. (2016). Retrieved September 09, 2016, from https://alsadotorg.wordpress.com/2016/07/22/nek1-gene-announcement/

 ALS Association. What is ALS? Retrieved September 09, 2016, from http://www.alsa.org/about-als/what-is-als.html

 

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