What Is The Ice Bucket Challenge For?

Science 2014-09-05

After asking around almost everyone has heard of, or done, the Ice Bucket Challenge but very few knew exactly what ALS was. On 29th July the Ice Bucket Challenge was started as a campaign to raise awareness for Amyotrophic lateral sclerosis (ALS) and it has done exactly that. In a matter of weeks ALS has gone from being an almost unheard of illness to donationsexceeding $108.4 million.


The popularity of the ice bucket challenge on social media has been helped by a multitude of celebrities joining in to help raise awareness. Over 500 famous faces have thrown ice water over themselves in the name of charity including: Leonardo DiCaprioJennifer AnistonSteven SpielbergKate MossJustin BieberGordon RamsayBill GatesGeorge W. Bush and Kermit the Frog.


Kermit The Frog


Amyotrophic lateral sclerosis, also known as Motor Neurone disease or Lou Gehrig’s disease, is a neurodegenerative disorder that causes muscle spasticity, progressive weakness and gradual difficulty in speaking, breathing and swallowing.  It is estimated that 30, 000 people in the US are currently suffering with ALS with an estimated life expectancy of just 39 months after diagnosis.


The difficulty with studying ALS is that the cause is relatively unknown, 90-95% of cases show no links to genetics or risk factors leaving just 5-10% of cases that appear to be inherited. In the majority of inherited cases a mutation exists in either of the genes C9ORF72 or SOD1 (copper-zinc superoxide dismutase 1).


The good news is that some of the studies into potential treatments for ALS have had several breakthroughs in recent months.


One particular 8-year long study at the Harvard Stem Cell Institute reached a breakthrough earlier this summer. In 2007 the study established that glial cells are involved in the degeneration during ALS, this year they reported that the change occurs in the prostanoid receptors of the glial cells to cause the degeneration of neurons. The team has already established that inhibition of the receptor causes the glial cells to lose their toxicity. This discovery is the beginning of potential new research into using the prostanoid receptor as a drug target for the treatment of ALS.


Studies into a genetic form of ALS at the Mayo Clinic and The Scripps Research Institute have developed a possible strategy to combat ALS in patients with the C9OF72 gene mutation. This mutation causes a build up of abnormal RNA in the brain and spinal cord, which is toxic. The team identified this RNA as a potential drug target and developed a molecule that binds to the RNA to prevent it clumping together.  As well as being a drug target the RNA can also be used as a biomarker to aid diagnosis and monitoring of the disease.


Oregon State University has also been studying a genetic form of ALS and researchers have identified the link between the mutation in SOD1 and the degeneration of motor neurones. The mutated SOD1 protein lacks the copper and zinc cofactors, which causes it to unfold; this unfolded form of SOD1 is toxic and causes the death of the motor neurones. To reverse the toxicity of the unfolded protein the proper balance of copper has to be restored in the brain and spinal cord. The team used a copper compound that’s been known for decades to restore the copper in mice and extended the lifespan of the mice with ALS by 26%.


Although we have not reached a cure yet, the breakthroughs in research are promising. Importantly the Ice Bucket Challenge is raising enough money to really make a difference and will no doubt play an important role in the next stages of some of this research.


So keep up the donating and tweet me @GabyAtNotch with your Ice Bucket Challenge!


Image source (www.techtimes.com)