Study: CBD Restores Key Mitochondrial Function in Cells From Rare Genetic Disorder Barth Syndrome

A new study published in The FASEB Journal found that cannabidiol (CBD) restored several major cellular and mitochondrial deficits in immune cells derived from people with Barth syndrome, a rare inherited disorder that can cause serious metabolic and immune-related complications. Researchers from the University of Waterloo examined B-lymphoblastoid cells taken from patients with Barth syndrome, which is caused by mutations in the TAFAZZIN gene. That gene plays a key role in remodeling cardiolipin, a phospholipid necessary for healthy mitochondrial function. Although the disorder is best known for causing cyclic neutropenia, researchers say growing evidence indicates it may also contribute to lymphopenia, or low lymphocyte levels.

In the study, treatment with 1 μM of CBD restored the growth of Barth syndrome-derived cells to levels seen in healthy control cells. The treatment also fully restored total cellular cardiolipin concentration and normalized the ratio of monolysocardiolipin to cardiolipin, a key marker of the disorder. However, CBD did not restore the fatty acid composition of cardiolipin.

Researchers also found that CBD improved mitochondrial performance. It significantly increased maximal coupled state III respiration in the Barth syndrome cells, and all five Barth syndrome donors tested showed improved mitochondrial membrane potential after treatment. CBD also fully reversed deficits in succinate dehydrogenase subunit A and partially reversed deficits in cytochrome c oxidase subunits I and IV, while partly restoring one mitochondrial supercomplex.

The researchers say the findings point to CBD as a possible therapeutic option for Barth syndrome-related B-lymphopenia, although they stress that more research is needed to determine whether these effects translate into clinical benefits in patients.