CBD found effective in alleviating Leigh syndrome symptoms

A new study published in Nature Communications reveals that cannabidiol (CBD) could be a promising treatment for Leigh syndrome (LS), the most common pediatric mitochondrial disease. This study highlights the therapeutic potential of CBD in both mouse models and cells derived from LS patients.

Leigh syndrome is a severe neurodegenerative disorder caused by mutations in mitochondrial genes, leading to progressive neuromuscular decline and often premature death. Current treatment options are limited to palliative care. However, this new research demonstrates that CBD not only extends lifespan in two LS mouse models but also alleviates key symptoms like motor decline, breathing issues, and seizures.

How CBD Works in Treating Leigh Syndrome

One of the most significant findings was the identification of peroxisome proliferator-activated receptor gamma (PPARγ) as a key target of CBD’s beneficial action. PPARγ regulates genes linked to mitochondrial function and inflammation, both of which are disrupted in LS. By activating this receptor, CBD improves cellular processes and reduces neuroinflammation and oxidative stress—key features of Leigh syndrome.

In addition to the animal models, researchers also tested CBD on fibroblast cells from LS patients, where it enhanced the cells’ antioxidant responses, pointing to its broader therapeutic potential in humans.

Dr. Francesc Xavier Soriano, researcher at the Institute of Neurosciences of the University of Barcelona  (UBneuro) emphasized that the study’s provides the first evidence for CBD as a potential treatment for LS. Moreover, the fact that PPARg has been identified as a key molecule mediating CBD’s beneficial effects broadens the range of the pharmaceutical targets in the search of effective treatments for LS.  

Beyond animal models, the study also tested CBD on fibroblast cells derived from LS patients, revealing that the compound enhanced the cells’ antioxidant defenses. This suggests that CBD could counteract oxidative stress—a hallmark of mitochondrial diseases—thereby improving overall cell health and potentially slowing disease progression in humans.

A Collaborative Effort in Groundbreaking Research

The study was part of a larger collaborative effort coordinated by the UAB Institut de Neurociències and included contributions from several leading institutions besides UBneuro, such as the Institute for Neuroscience of Alicante (UMH-CSIC), the Neurocentre Magendie in France, and Minoryx Therapeutics, a biotech company focused on developing treatments for rare diseases.

According to Dr. Emma Puighermanal, researcher at the INc-UAB and lead author of the article, the research team has already obtained orphan drug designation for CBD from the European Medicines Agency (EMA), a status that provides incentives such as reduced development costs and extended market exclusivity. “We hope all of this will help in the translation of our results to clinical practices,” said Puighermanal.

Reference Article: Puighermanal, E., Luna-Sánchez, M., Gella, A. et al. «Cannabidiol ameliorates mitochondrial disease via PPARγ activation in preclinical models». Nat Commun 15, 7730 (2024). https://www.nature.com/articles/s41467-024-51884-8

For further information: https://www.uab.cat/web/newsroom/news-detail/cannabidiol-demonstrated-to-alleviate-symptoms-of-leigh-syndrome-1345830290613.html?detid=1345926043614