A large consortium of researchers from six countries have definitively identified a new ALS gene called TANK-binding kinase 1 (TBK1) by performing a rigorous study that involved sequencing of more than 2800 people with ALS compared with more than 6000 control samples. Canadian researcher Dr. Guy Rouleau, Director of the Montreal Neurological Institute and his colleague Dr. Patrick A. Dion, along with current Tim E. Noël (ALS Canada) Postdoctoral Fellowship recipient Dr. Claire Leblond are authors on this landmark manuscript, recently published early online for the top journal Science.
The discovery of TBK1 as an ALS gene is interesting because it not only provides new pathways to focus on, but it links quite closely with a number of other previously discovered ALS genes. In particular, TBK1 is closely related to the ALS gene optineurin (OPTN) and a process of recycling things inside cells called autophagy. Both OPTN and autophagy have been studied, but this new discovery places increased importance on their potential roles for understanding the disease. TBK1 is also an important part of an inflammatory mechanism that will now certainly be explored in more depth.
This study is another example of how the ALS research community is working collaboratively to drive the field forward. Typically discovery of a new ALS gene by a single institute or lab requires proof that it is important in the disease by confirmation in other sets of genetic samples studied elsewhere. In this case, the large number of combined sample sets and world renowned scientists involved confirms TBK1 as a bona fide gene/protein to focus further work on. Furthermore, there are still stronger, more advanced techniques that will be employed to hopefully identify even more ALS genes, each which represent targets (puzzle pieces) to study for understanding the disease, but also a potential place where treatments can be targeted.