In a previous post on this blog back in November, I spend some time talking about Amyotrophic lateral sclerosis, i.e. ALS, i.e. Lou Gehrig’s Disease, and pander a bit for stem cell research. That post is dedicated to the novel finding of a specific way that neural cells are damaged and the creation of an antibody that can recognize the malfunctioning protein causing the damage.
However, that discovery only really pertained to about a quarter of the 10 percent of ALS patients who have gained their affliction through genetics. It hadn’t yet been extrapolated to the beginnings of a way to treat the other 90 percent who suffer from “sporadic” ALS, a.k.a., who-the-hell-knows-where-it-comes from ALS.
But that was yesterday. This is today. And today, scientists from Northwestern University have announced the discovery of the underlying cause of all ALS cases.
The culprit is a protein called ubiquilin2. In a normally functioning person, the protein hauls away misfolded proteins in motor and cortical neurons for destruction and recycling. It continually cleans the cobwebs out of your noggin. But in people with ALS, the protein isn’t doing its job. So the garbage sits and rots, building up in the neural pathways and causing the degeneration of other neurons.
Whether hit with genetic or “familial” ALS, sporadic non-hereditary ALS, or ALS that targets the brain called ALS/dementia – all show a buildup in malfunctioning ubiquillin2 proteins. All three forms are tributaries pouring into a common river of cellular incompetence. All three come from the same source and all three pool into the same ocean of despair.
Lead author Teepu Siddique has been searching for an underlying mechanism of ALS for more than 25 years. His first efforts showed in 1989 that molecular genetics techniques were applicable to ALS, then described the first ALS gene locus in 1991, which led to the discovery of SOD1 and engineering of the first genetic animal model for ALS.
Now, with a common cause in hand. Siddique and doctors around the world can begin pursuing a treatment for the disease by testing drugs that could regulate the protein pathway or optimize it so that it functions as it should in a normal state.
Look out, ALS, the angry mob is knocking at your door.