A dietary supplement has beneficial effects in Niemann-Pick type C disease

Niemann-Pick type C disease is an inherited disorder for which there is no treatment, caused by low levels of the NPC1 and NPC2 proteins, which regulate cholesterol in lysosomes (cell organelles). Consequently, the body cannot properly break down cholesterol, which accumulates in cells and causes neurodegenerative effects primarily affecting the cerebellum with extended impact on visceral organs such as the liver.

This work, carried out by the ‘Mitochondrial Regulation of Cell Death’ group at the IIBB-CSIC, IDIBAPS, and CIBEREHD, with Leire Goicoechea as first author and directed by Carmen García-Ruiz and José C. Fernández-Checa, reveals that S-adenosyl-L-methionine (SAM) could be a new strategy for treating this disease. SAM is a substance produced naturally by the body and participates in essential functions. However, it is also synthesized and marketed as a supplement, currently used for the treatment of psychiatric, neurological, and hepatic diseases.

This study investigated the role and levels of SAM molecule in Npc1-/- mice, a murine model that reproduces NPC disease characteristics in humans. The study also involved collaboration with the teams of Josefina Casas and Gemma Fabriàs from the IQAC-CSIC and was carried out thanks, in part, to funding from the American non-profit organization “Together Strong NPC Foundation.”

As the researchers explain, SAM could represent a promising therapy for NPC treatment as it is safe and easy to obtain, currently used for the treatment of psychiatric, neurological, and hepatic diseases, is orally administered, and well-tolerated. However, additional studies are needed to determine if SAM treatment can work well in conjunction with other treatments approved by health authorities.

Leire Goicoechea et al., S-adenosyl-L-methionine restores brain mitochondrial membrane fluidity and GSH content improving Niemann-Pick type C disease. https://doi.org/10.1016/j.redox.2024.103150.