The lethal neuromuscular disease ALS (Amyotrophic Lateral Sclerosis, or Lou Gehrig’s disease) made headlines last year during the “ice bucket challenge.” Last month, it returned to news pages when a study published in the journal Science proposed an explanation for protein clumps in neural cells of ALS patients.
The study, which was released from Johns Hopkins, represents a major contribution to scientists’ understanding of ALS. The progressive disease has no known cure, but the ongoing research in that direction has benefitted from an outpouring of financial support stemming—at least in part—from the viral ice bucket challenge of the summer of 2014.
“Without [the challenge], we wouldn’t have been able to come out with the studies as quickly as we did,” Philip Wong, a professor of pathology at Johns Hopkins, and the study’s lead author, told The Washington Post.
While ALS research has been going on for decades — and Wong’s team has been involved with it for about 10 years — this most recent study was able to explore the protein TDP-43. While it has been known for about 10 years that clusters of this protein frequented the brain cells of ALS patients, it was not clear, according to Washington Post, whether the phenomenon was a cause or effect of the disease. Cells in which TDP-43 has begun to malfunction this way die within several days.
The study from Johns Hopkins has developed a protein that reproduces the normal functioning of TDP-43. When this protein was injected into the failing neurons, the affected cells regained their normal functioning. The next step, according to Wong, is to determine whether this imitation protein could eventually be used to treat the whole organism (or person, if and when the treatment enters clinical trials) rather than individual cells.
According to Jonathan Ling, who also researches ALS at Johns Hopkins, the additional financial support in the field has enabled more “high risk, high reward” study foci than would be possible with more limited funding.
Public awareness for ALS increased during the months of the ice bucket challenge, which was introduced in the summer of 2014 and encouraged millions of social media users to pour ice water over themselves and share the footage to raise funds and awareness for the disease. According to a Johns Hopkins staff report, about three million people participated.
The ALS Association reports that around 6,400 people are diagnosed with ALS in the United States each year. Most of these succumb within five years of the diagnosis due primarily to the progressive reduction and eventual loss of voluntary muscle movement, according to the ALS Association.
While critics have argued that the glut of funding to ALS may have diverted funds that would otherwise benefit more common diseases, Wong disagrees, saying, “The lesson that we learned can be applied to other human diseases.”