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Genetic mutations linked to disease usually mean bad news
A gene newly associated with amyotrophic lateral sclerosis (ALS) is located in a part of our genome that was once called "junk DNA
Hornstein's lab in the Weizmann Department of Molecular Neuroscience and Molecular Genetics studies neurodegenerative diseases, diseases in which neurons degenerate and die
A few years ago, the Ice Bucket Challenge went viral and many people knew about ALS
"Our brain has an immune system," explained Dr.
The problem is that in amyotrophic lateral sclerosis, neurodegeneration becomes so severe that chronic microglial activation in the brain reaches extremely high levels and becomes toxic
That's what the new findings, published today in the journal Nature Neuroscience, come in
After analyzing the genomes of more than 6,000 ALS patients and more than 70,000 non-ALS patients, the researchers concluded that the newly identified genetic mutation reduces the risk of developing ALS by a factor of nearly five
To confirm these findings, the researchers used gene editing techniques to introduce protective mutations into stem cells from ALS patients, allowing the cells to mature into microglia in a laboratory dish
Eitan noted that the findings have potential implications for amyotrophic lateral sclerosis research
