A team of scientists from Brandies University have made a breakthrough with the treatment of the mutant gene of Lou Gehrig's disease, a form of familial ALS (amyotrophic lateral sclerosis). ALS is a fatal neurodegenerative disease that is a non-curable and has the ability to destroy most motor neurons, which in return causes muscle weakness and atrophy throughout the body.
Jeff Agar, a chemist at Brandies University, explained that him and a few other researchers studied mutations of the gene that creates SOD1, a protein that is responsible for causing much of the familial form of ALS. SOD1 is one of the body's hardest working antioxidants that turns superoxide, a dangerous free radical, into water, and some ALS mutations stop SOD1 from properly doing its job. The mutations cause the protein to become unstable, which means it falls apart into two identical pieces known as monomers. These monomers are sticky and clump up inside of the axon, which is the projection of the motor neuron that conducts electrical impulses. If the axon inside the neuron becomes clogged, it evenutally dies. To prevent this from occurring, the team developed a "chemical rope" that ties the two monomers together to create a stable dimer. This idea potentially solves the instability problem, and helps SOD1 to properly do its job by reactivating the mutants.
Agar explained that this was only the beginning and there was a long road ahead of them until this discovery could benefit ALS patients. But, they are already moving forward quickly and their next step is to study SOD1 in cell cultures and in a mouse model to develop a pre-clinical candidate drug.
I found this article very interesting because I was unaware of the mechanisms that caused the mutation. I have always known about LGD but never the actual molecular causes of the symptoms. It is amazing how a change in one gene can change have that much of an effect on the way a person’s body functions. This research is incredibly exciting because as with most genetic research, discovering the cause is just as important as discovering the solution or treatment. This research available now will hopefully inspire others to start working on ways to treat this crippling disease. This research also looks as though treatment will be avaiable in the near future because they are already starting mouse model trials.
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