Scientists at the Washington University School of Medicine in St. Louis may have found the cause of Krabbe disease. This is a fatal genetic disease, the development of which is still largely a mystery today. Starting from some animal models, the researchers identified the biochemical pathway leading to the disease.
The discovery could lead to the development of possible therapeutic strategies. The disease causes the loss of the protective film of the axons, deteriorated by psychosine. This causes neurological damage and death within 3 years. In fact, those suffering from the disease lack a protein that destroys psychosine. However, it was not clear what the exact source of psychosine was, making it impossible to solve the problem.
The authors of the study found that guinea pigs with Farber's disease were immune to Krabbe disease. Farber is another lethal genetic disease, characterized by the absence of ceramidase. When this protein is missing, psychosine is no longer able to form and nullifies the effects of Krabbe. Even more incredible, mice with both genetic diseases have survived more than the other sick guinea pigs.
Tests prove that ceramidase is the trigger of the disease, which triggers the toxic levels of psychosine. As a result, the researchers administered a protein inhibitor in sick Krabbe mice, usually used in chemotherapy. Mice lived a little longer, though not much. So we can't talk about a therapy yet, but it's still a beginning.