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Identifying ALS-preventing mutation, Israeli researchers hope for path to treatment

Israeli scientists have discovered a genetic mutation they say appears to afford protection against the degenerative disease ALS.

Now they have high hopes they can use the discovery to help patients afflicted with the illness.

People with the specific mutation in their DNA have one-fifth the chance of the general population to develop the disease made famous by the Ice Bucket Challenge. The research from the Weizmann Institute of Science is newly peer-reviewed and published in Nature Neuroscience.

Weizmann experts found the mutation through lab screening DNA samples of around 70,000 people. They found the mutation in noncoding DNA — formerly known as “junk” DNA as it doesn’t tend to have a clear biological function.

“Until now, there have been 25 genes that were linked to ALS, all of them because they appear to cause the disease or make it worse,” Dr. Chen Eitan, who led the study together with Prof. Eran Hornstein, told The Times of Israel.

“But when we looked at noncoding DNA, we found a mutation that does the opposite. It actually appears to significantly reduce the chances that a person will have ALS, to a fifth of the usual risk.”

Immune cells in the brains of ALS patients, with the cell nucleus in blue. The research team at the Weizmann Institute of Science has discovered a genetic mutation that reduces their toxicity and therefore brain degeneration (Weizmann Institute of Science)

“So in short we found a ‘hit’ associated with ALS, but a mutation that actually cuts vulnerability instead of vice-versa.”

Dr. Chen Eitan of the Weizmann Institute of Science (Weizmann Institute of Science)

Eitan said that when people have the beginnings of brain inflammation the likes of which causes ALS symptoms, the mutation appears to reduce or halt its development. It does so by inhibiting the release of substances in the brain that normally intensify inflammation.

“The mutation works by inhibiting a toxic pathway that would naturally make ALS symptoms worse,” she stated.

“Now, we are working on mimicking the mutation in order to see whether this has a positive effect on patients. We’re hopeful that this could help people who are sick with ALS.”

Plans are already underway for in-vitro experiments and for testing the approach on mice, Eitan added.

She said that there is a wider message in her team’s breakthrough — namely that there are important discoveries to be made in noncoding DNA, contrary to its formerly common label as “junk.”

She commented: “Our findings indicate that scientists should not ignore noncoding regions of DNA – not just in ALS research, but in studying other diseases with a genetic component as well.”


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