Last year around this time, the Newtown Athletic Club athletic club raised over $180,000 for Augie's Quest in an effort to fund research for ALS. This year we have gotten a head start through events like the Dinosaur Eyelids benefits show, and are hoping to eclipse last years numbers. I wanted to give you all an update on how the money is being spent on research that will save my life and the lives of many others...
Back in the bad old days on Guam, when everyone and their brother was getting ALS/PD/Dementia complex, they thought it might have been driven by a low Magnesium and Calcium diet in addition to the consumption of the flying fox which had high concentrations of a toxic protein in its brain. When they studied the genes, they found those who got sick were more likely to have a single nucleotide polymorphism (SNP) at TRPM7. TRPM7 is the gene that regulates calcium and magnesium ion homeostasis. It kind of got written off as an overall driver in ALS because the mutation is not terribly uncommon, and thankfully ALS is pretty rare still. On a gamble, the brilliant researchers from ALS.NET decided to see if there was a higher prevalence of the SNP in their Precision Medicine Program participants, and as expected, the numbers did not differ from the healthy controls. What did jump out at them is that some of the people in the patient population were homozygous for the SNP, meaning we carry a copy of the mutation from each parent (example of what the genetic data provided back from ALS.net to people in the program get is below). Anyway, this was not found in the healthy controls. This supports a little discussed theory that ALS could be caused by the depletion of essential trace ions. For example, athletes and military veterans subject themselves to chronic electrolyte depletion through exertion and overhydration. Furthermore, these same people are more likely to be exposed to toxic proteins through environmental factors.
What makes this exciting is that this is the only known mutation that is outside the cell and is actually a receptor making a very plausible target for small molecule therapy. Pretty much every current FDA approved drug binds to a cell receptor like this. The potentially better news is that modulating the expression of TRPM7 could benefit even those people with ALS that don't carry the SNP.
To give an idea as to how much your donations are helping fight this disease, the lab is expecting more concrete answers in a matter of months (that is a nanosecond in the world of ALS research). To those who have helped, I hope you know you are part of something big and amazing. Here is hoping for an awesome Spring/Summer 2016. Donate if you can.
(This post is adapted from a similar one on my Facebook January 14, 2015)