The NEK1 gene owes its discovery to the ALS Ice Bucket Challenge, a viral fundraising event in which participants pour a bucket of ice over their heads to raise money for ALS research. Through the challenge, The ALS Association funded Project MinE and it’s work in sequencing genomes, leading to what the association is calling the “breakthrough” discovery of NEK1.
The new research reveals the role of the NEK 1 gene in neurons, where a disturbance may cause the progression of ALS. Neurons are cells that coordinate the movements of the human body and are building blocks for the spinal cord and brain. The cytoskeleton, which shapes the neuron and aids transport, depends on the gene for upkeep. The membrane of neuron mitochondrion performs DNA repair, provides energy to neurons and is contingent upon the NEK1 gene for regulation.
The NEK1 discovery is an important contribution to the understanding of ALS, which has destroyed too many innocent lives. The Ice Bucket Challenge is proof of how the combined efforts of people worldwide can bring about a positive step to help those suffering from this debilitating disease.
The Ice Bucket Challenge has occurred annually since 2014, and has raised more than $100 million with the participation of many celebrities. Youtube.com displays Ellen DeGeneres pouring a freezing cold bucket on Kim Kardashian while she snaps a selfie, and Bill Gates using a complicated contraption he assembled himself to accomplish the task. Additionally, masses of Twitter and Facebook followers have participated in and watched the worldwide challenge take place.
ALS, otherwise known as Lou Gehrig’s disease, is a neurological disease that influences the spinal cord and nerve cells in the brain. Characteristics of the disease include arm or leg weakness, muscle twitching and loss of muscle control. With no cure, most victims of ALS ultimately die from the disease.