ALS, often referred to as "Lou Gehrig's disease," is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord. Motor neurons travel from the brain to the spinal cord and from the spinal cord to muscles throughout the body. Over time, the progressive degeneration of motor neurons caused by ALS results in their death. When motor neurons die, the brain loses the ability to initiate and control muscle movement, as in the case of Stephen Hawking.
For Dr. Soledad Matus, a scientist at the NEUROUNION Foundation, the findings of these mutations open the way to new ways of understanding the disease and help in the creation of effective treatments. In the latter area, there are already advances in this regard. One of them is the discovery of a type of sugar called Trehalose, present in the food industry. This preservative, tested in experimental animals, showed key effects in "cleaning" the motor neurons of garbage and toxins, which generated a delay in the progression of ALS.
In this way, the team led by Hetz is getting closer and closer to a possible cure for the disease once it is feasible to administer the doses in humans. The scientist declared in his most recent interview to the magazine Qué Pasa that "If we manage to perform a gene therapy in humans, we will cure ALS. We have been pioneers, we have the tools and we have the alliances to reach the patient".