Researchers have found a new gene that is linked to sporadic amyotrophic lateral sclerosis (ALS). Richard Bedlack said, “We’re certainly one step closer to understanding this disease. It’s been very difficult to understand.” This new gene is called TBK-1. According to Bedlack, everyone has the TBK gene, but those with ALS have a mutated form of this gene.
TBK-1 normally plays a complex role in the immune system which includes inflammation (a reaction to injury or infection), and autophagy (a process involved in removal of damaged cellular components). Much is known about the genes behind familial ALS, but only a few have been linked to sporadic ALS, which includes about 90% of ALS patients.
This data was achieved through a “next-generation” study which used advanced DNA sequencing methods. This study included the exomes of 2,874 ALS patients and 6,405 control exomes. This is the largest number of ALS patients ever sequenced in a single study. The study included over two dozen laboratories in six countries. This collaboration with multiple countries is a good sign for ALS. Lucie Brujin, PhD, said that this study, “…highlights the global and collaborative nature of ALS research today.
This new and exciting discovery highlights the progress ALS research has made. Sporadic ALS has confused the ALS world for quite a while, and this discovery brings us one step closer to finding a cure. As Dr. Merit Cudkowitz said, “This is a time of great hope in ALS.”
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