The studies both showed that the inherited ALS gene -- C9orf72 -- develops before neurodegeneration takes place and therefore can be reversed by using therapies that target the gene. Both research teams created a new model of C9orf72 disease by inserting the gene into mice with an artificial bacterial chromosome.
“These two studies use an important new model of ALS to explore the critical question of how the C9orf72 mutation leads to disease,” Dr. Lucie Bruijn, chief scientist for the ALS Association, said. “If the results found here are applicable to human disease, they tell us that early intervention, before neurodegeneration begins, may be feasible and therapeutic."
ALS affects nerve cells in the brain and spinal cord. ALS patients quickly lose muscle control and function; total paralysis often occurs. The majority of patients with ALS die within two to five years of their diagnosis.
The studies were overseen by Dr. Jacqueline O’Rourke and Dr. Robert Baloh, both of Cedars-Sinai Medical Center in Los Angeles, and Dr. Owen Peters, Gabriela Toro Cabrera and Dr. Robert Brown, of the University of Massachusetts Medical Center in Worcester.
More information about ALS and ALS research can be found online at www.alsa.org.
ALS was first found in 1869 by French neurologist Jean-Martin Charcot, but it wasn’t until 1939 that Lou Gehrig brought national and international attention to the disease. Ending the career of one of the most beloved baseball players of all time, the disease is still most closely associated with his name.
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their death. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, patients in the later stages of the disease may become totally paralyzed.