Cannabidiol has been shown to prolong life and alleviate symptoms in patients with Leigh syndrome.

A study conducted by UAB Institut de Neurociències and published in the journal Nature communication shows in animal models how daily administration of cannabidiol (CBD), a substance derived from the cannabis plant, extends life and alleviates symptoms associated with Leigh syndrome. This severe mitochondrial disease affecting children is characterized by a progressive decline in cognitive and motor functions and premature death. The research group also showed in mice and fibroblasts from children with the disease that CBD improves cell function.

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

Dr. Emma Puighermanal and Albert Quintana, researchers at the Laboratory of Mitochondrial Neuropathology of the Institut de Neurociències at the Universitat Autònoma de Barcelona (INc-UAB), have spent years studying the disease. They are trying to understand the processes that cause dysfunction of mitochondria, the organelles responsible for providing energy to cells, and find therapies capable of reversing it.

In a study published in Nature communicationresearchers have shown that daily administration of CBD is a promising treatment option. Thanks to its multiple effects, it provides antioxidant, anti-inflammatory, and anticonvulsant effects that improve symptomatology and facilitate restore cell function in patients. The study was conducted on two different mouse models of Leigh syndrome, as well as on fibroblast cells from patients.

The results revealed that CBD acts at multiple levels in the cell, including activating a protein inside the cell nucleus known as PPARγ. This protein regulates the expression of multiple genes involved in immune response, oxidation, and mitochondrial function and has been observed to be altered by disease. CBD also increases the expression of the protein metallothionein, which enhances its antioxidant response.

In animal models, cannabidiol administration improved neuropathology in affected brain areas, breathing abnormalities, and social deficits, and also delayed motor decline and neurodegenerative symptoms. In addition, mice receiving the treatment lived significantly longer than those not receiving the treatment. In fibroblast cells from patients, CBD improved their antioxidant processes.

The benefits we saw, along with CBD’s unthreatening and well-tolerated profile, show that this is a really promising treatment option for patients with Leigh syndrome.

Dr. Albert Quintana, researcher at INc-UAB and lecturer at the Department of Cell Biology, Physiology and Immunology at UAB

A year ago, scientists obtained orphan drug status for CBD from the European Medicines Agency, which comes with many benefits, such as lower development costs. “CBD has already been approved by the US FDA for the treatment of other sporadic childhood diseases. We hope that all this will facilitate translate our results into clinical practice,” concludes Dr. Emma Puighermanal, a researcher at INc-UAB and lead author of the paper.

The research, designed and coordinated by INc-UAB, also included collaborations with the Institute of Neurology of Alicante (UMH-CSIC), the Institute of Neurology of the University of Barcelona (UBneuro), the French Neurocentre Magendie and Minoryx Therapeutics.