Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Cirulli ET., Lasseigne BN., Petrovski S., Sapp PC., Dion PA., Leblond CS., Couthouis J., Lu Y-F., Wang Q., Krueger BJ., Ren Z., Keebler J., Han Y., Levy SE., Boone BE., Wimbish JR., Waite LL., Jones AL., Carulli JP., Day-Williams AG., Staropoli JF., Xin WW., Chesi A., Raphael AR., McKenna-Yasek D., Cady J., Vianney de Jong JMB., Kenna KP., Smith BN., Topp S., Miller J., Gkazi A., Al-Chalabi A., van den Berg LH., Veldink J., Silani V., Ticozzi N., Shaw CE., Baloh RH., Appel S., Simpson E., Lagier-Tourenne C., Pulst SM., Gibson S., Trojanowski JQ., Elman L., McCluskey L., Grossman M., Shneider NA., Chung WK., Ravits JM., Glass JD., Sims KB., Van Deerlin VM., Maniatis T., Hayes SD., Ordureau A., Swarup S., Landers J., Baas F., Allen AS., Bedlack RS., Harper JW., Gitler AD., Rouleau GA., Brown R., Harms MB., Cooper GM., Harris T., Myers RM., Goldstein DB.
New players in Lou Gehrig's disease Amyotrophic lateral sclerosis (ALS), often referred to as “Lou Gehrig's disease,” is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Cirulli et al. sequenced the expressed genes of nearly 3000 ALS patients and compared them with those of more than 6000 controls (see the Perspective by Singleton and Traynor). They identified several proteins that were linked to disease in patients. One such protein, TBK1, is implicated in innate immunity and autophagy and may represent a therapeutic target. Science , this issue p. 1436 ; see also p. 1422