Ice Bucket Challenge funds discovery of gene linked to inherited ALS

[nimelennar]

Only about 10% of ALS cases are in patients with a family history, but a study has found a gene in common in 3% of all ALS patients.

The gene, called NEK1, was discovered by research funded through the Ice Bucket Challenge, popular in 2014.

NEK1 is known to have multiple roles in neurons, including maintenance of the cytoskeleton that gives the neuron its shape and promotes transport within the neuron. In addition, NEK1 has roles in regulating the membrane of the mitochondrion, which supplies energy to neurons, and in repairing DNA. Disruption of each of these functions through other means has been linked to increased risk of ALS.

Source:

New gene variants present in three percent of all ALS patients

[anon67050589]

Wow. It actually worked! Although, 3% doesn’t seem like a full Hip Hip Hooray win just yet.

[nimelennar]

No, but I had zero expectation that the Ice Buckets would do any good at all for the cause.

Sometimes, being proved wrong is nice.

[anon67050589]

Exactly!

[billytheclub]

Excellent! I hope this leads to a cure. ALS is a cruel disease.

It is gratifying to see that charity like the ice bucket challenge can make an actual difference. Really cool…

[anon61221983]

@anon67050589

Hip Hip Hooray

[nungesser]

This is a much, much better headline than the previous one. Thank you!