ALS is a degenerative disorder of the brain and spinal cord, which causes weakness and wasting of muscles.
Patients eventually become paralyzed and die, usually within five years.
The gene that causes ALS when mutated was discovered in 1993 by researchers in MGH laboratory of Robert H. Brown Jr., MD, PhD, who is a coauthor of the current Nature paper. In the current study, the MGH researchers used two strains of transgenic mice with mutations in key genes. One strain with mutations in SOD1 develops an ALS-like muscle disease. The other strain has a specific mutation called M17Z in the gene coding for the ICE protein. Discovered in 1993 by a team of researchers from the MGH and the Massachusetts Institute of Technology, the ICE gene controls some instances of programmed cell death, a natural process in which cells not necessary for normal development essentially commit suicide.