Editors' ChoiceMedicine

New players in Lou Gehrig's disease

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Science Signaling  31 Mar 2015:
Vol. 8, Issue 370, pp. ec79
DOI: 10.1126/scisignal.aab2103

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.

E. T. Cirulli, B. N. Lasseigne, S. Petrovski, P. C. Sapp, P. A. Dion, C. S. Leblond, J. Couthouis, Y.-F. Lu, Q. Wang, B. J. Krueger, Z. Ren, J. Keebler, Y. Han, S. E. Levy, B. E. Boone, J. R. Wimbish, L. L. Waite, A. L. Jones, J. P. Carulli, A. G. Day-Williams, J. F. Staropoli, W. W. Xin, A. Chesi, A. R. Raphael, D. McKenna-Yasek, J. Cady, J. M. B. V. de Jong, K. P. Kenna, B. N. Smith, S. Topp, J. Miller, A. Gkazi, FALS Sequencing Consortium, A. Al-Chalabi, L. H. van den Berg, J. Veldink, V. Silani, N. Ticozzi, C. E. Shaw, R. H. Baloh, S. Appel, E. Simpson, C. Lagier-Tourenne, S. M. Pulst, S. Gibson, J. Q. Trojanowski, L. Elman, L. McCluskey, M. Grossman, N. A. Shneider, W. K. Chung, J. M. Ravits, J. D. Glass, K. B. Sims, V. M. Van Deerlin, T. Maniatis, S. D. Hayes, A. Ordureau, S. Swarup, J. Landers, F. Baas, A. S. Allen, R. S. Bedlack, J. W. Harper, A. D. Gitler, G. A. Rouleau, R. Brown, M. B. Harms, G. M. Cooper, T. Harris, R. M. Myers, D. B. Goldstein, Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science 347, 1436–1441 (2015). [Abstract] [Full Text]

A. B. Singleton, B. J. Traynor, For complex disease genetics, collaboration drives progress. Science 347, 1422–1423 (2015). [Abstract] [Full Text]