Cannabidiol Relieves Symptoms of Leigh Syndrome

A study conducted by the UAB Institute of Neurosciences and published in the journal Nature Communications demonstrates in animal models how daily administration of cannabidiol (CBD), a substance obtained from the cannabis plant, prolongs lifespan and improves symptoms associated with Leigh syndrome.

This serious mitochondrial disease that affects children is characterized by a progressive decline in cognitive and motor functions and premature death. The research group also demonstrated, in mice and fibroblasts from children with the disease, that CBD improves cellular function.

Leigh syndrome is a rare mitochondrial disease that particularly affects the most energy-intensive organs and tissues: muscles and the nervous system. It is characterized by progressive neuromuscular decline and premature death, and there is currently no approved treatment. Therefore, there is an urgent need to find a solution for patients suffering from this disease.

Doctors Emma Puighermanal and Albert Quintana, researchers at the Mitochondrial Neuropathology Laboratory of the Institute of Neurosciences of the Autonomous University of Barcelona (INc-UAB), have been studying this disease for years. They seek to understand the processes that cause the dysfunction of mitochondria, the organelles responsible for providing energy to cells, and to find therapies capable of reversing this phenomenon.

In the study, the researchers demonstrated that daily administration of CBD is a promising therapeutic option. Thanks to its multiple actions, it provides antioxidant, anti-inflammatory and anticonvulsant effects, which improve symptoms and help recover cellular functions in patients. The study was conducted with two different mouse models of Leigh syndrome, as well as with fibroblast cells from patients.

The results revealed that CBD works at multiple levels within the cell, including activating a protein within the cell nucleus called PPARγ. This protein regulates the expression of many genes involved in immune response, oxidation, and mitochondrial function, and appears to be altered by disease. Additionally, CBD increases the expression of the protein metallothionein, which enhances its antioxidant response.

In animal models, cannabidiol administration improved neuropathology in affected brain regions, respiratory abnormalities, and social deficits, and also delayed motor decline and neurodegenerative signs. In addition, mice that received the treatment lived significantly longer than those that received no treatment. In patients’ fibroblast cells, CBD improved their antioxidant processes.

“The benefits we observed, together with the safe and well-tolerated profile of CBD, show that it is a truly promising treatment for patients with Leigh syndrome,” says Dr. Albert Quintana, a researcher at INc-UAB and professor in the Department of Cell Biology, Physiology and Immunology at UAB.

A year ago, researchers were granted orphan drug designation for CBD by the European Medicines Agency, which comes with many benefits such as reduced drug development costs.

“CBD has already been approved by the US regulatory agency FDA for the treatment of other rare pediatric diseases. We hope that all this will contribute to the translation of our results into clinical practice,” concludes Dr. Emma Puighermanal, researcher at INc-UAB and lead author of the article.