New Study Uncovers Why Mutated Gene Is Believed to Be Responsible for Certain Cases of ALS and Dementia; May Point Way to Effective Therapy

Lou Gehrig

Researchers at Case Western Reserve University School of Medicine, together with collaborators, have discovered why a gene that, when mutated, is a common cause of two debilitating brain diseases: amyotrophic lateral sclerosis (ALS) (Lou Gehrig’s disease) and frontotemporal dementia (FTD). The study found that the protein generated by this mutant gene, C9ORF72, influences the immune system by regulating the production of interleukin 17A (IL-17A), a potent inflammatory molecule. ALS is a neurodegenerative disease that results in progressive paralysis due to the loss of neurons in the central nervous system. ALS patients often have pre-existing autoimmune disease and inflammation of the brain that worsens as muscle function declines.

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