• Wed. Nov 29th, 2023

Israeli Researchers Identify Mutation to Fight ALS and Hope To Find Treatment

Apr 3, 2022

In recent news, scientists based in the State of Israel have found a genetic mutation. In their words, it appears to provide protection to help fight against the well-known degenerative disease, ALS. Consequently, the researchers are hoping that they can use this latest discovery in order to help treat patients suffering from this illness. The disease was made famous due to the Ice Bucket Challenge and research into it has revealed that people who have the specific mutation present in their DNA are one-fifth more likely to develop it, when compared to the general population. The research was conducted by the Weizmann Institute of Science in the Jewish State and has now been peer-reviewed. 

It was also just recently published in the popular magazine, Nature Neuroscience. Weizmann experts were able to find the specific mutation by using a lab to screen DNA samples taken from no less than 70,000 people. The noncoding DNA revealed the mutation at the end. This DNA was formerly referred to as the junk DNA, because of the fact that it does not have a clear biological function. Dr. Chen Eitan, the leader of the study, stated that up until now, researchers from various countries have been able to successfully link 25 genes to the disease. All of these, she said, appeared to make ALS worse or cause the disease itself. Her findings were confirmed by Prof. Eran Hornstein, who was also a part of this recent study. 

Eitan further asserted that a study of the noncoding DNA showed the mutation that was doing the opposite of the previously known 25 genes. She said that this junk DNA appeared to cause a significant reduction in the chances of a person being diagnosed with ALS. According to the details provided by the study leader, the risk of person contracting the disease falls to a fifth of the former figure. In the words of the expert researcher, the study helped find a hit that is association with the degenerative disease. However, she also explained that this mutation has been found to cut down on vulnerability, rather than provoke the disease. 

Eitan disclosed that when people start to experience the effects of brain inflammation, which is the primary cause of ALS symptoms, the mutation starts to bring about a reduction in the development of the disease. She added that it also has the ability to halt the effects of the degenerative disease completely. According to research, the specific mutation is able to do this by releasing substances in the brain that are normally responsible for intensifying the inflammation in the first place. 

Furthermore, she clarified that the mutation does its work by inhibiting one of the toxic pathways of the brain, which usually worsen the symptoms of the disease. Talking about the application of the research she said that the relevant personnel are trying to mimic the mutation to check whether it will have a positive impact on patients. She expressed hope at using this research to find a treatment that could help patients suffering from ALS.

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