06 March 2023

Researchers have found that vitamin B5 could help to improve red blood cell production of individuals with myelodysplastic syndromes (MDS).

A team, led by scientists at Barts Cancer Institute at Queen Mary University of London and the Francis Crick Institute, have found why patients with the condition suffer from ineffective red blood cell production.

People with MDS often develop acute myeloid leukaemia (AML) and about half become resistant to existing MDS treatments within 18 months to two years. This means they are heavily reliant on red blood cell transfusions, which can be painful and dangerous due to iron overload in the blood.

In this new study, published in Science Translational Medicine, the team describes analysing blood samples from 42 patients with myelodysplastic syndrome and ring sideroblasts (MDS-RS). They found the enzyme coenzyme A synthase (COASY) is critical in regulating red blood cell production in the bone marrow. Mutations in the gene SF3B1, found in 80% of MDS-RS cases, causes the loss of COASY protein.

The team went on to test if they could boost red blood cell production by supplementation with the metabolites of COASY enzyme. They found that both vitamin B5 and succinyl-CoA increased the maturation of red blood cells.

Study supervisor Kevin Rouault-Pierre, group leader at Barts Cancer Institute, said: “Current treatments for MDS are often associated with reduced quality of life as well as the increased risk of progression to leukaemia. Understanding the biology behind this stem cell disorder is key to unlocking new treatments of the future.

“Our next steps will be to further investigate how to boost red blood cell production and work towards testing new treatments in clinical trials.”

Syed Mian, from the Crick’s Haematopoietic Stem Cell Laboratory and joint first author with Celine Phillipe from Barts, added: “Given our elderly population is increasing and age is the dominant risk factor for the development of MDS, we will start to see more and more people with this type of blood cancer.

“Anaemia-related symptoms, such as chronic fatigue, are commonly reported in MDS and the current red blood cell transfusions, although essential, come with potential complications, and also require substantial human and financial resources.

“Therefore, it’s essential that we find alternative ways to regulate long term red blood cell production in these patients. Our results may also potentially help with treatments of other diseases where patients commonly present with anaemia.”



Mian SA, Philippe C, Maniati E, Protopapa P, Bergot T, Piganeau M, Nemkov T, Di Bella D, Morales V, Finch AJ, D'Alessandro A, Bianchi K, Wang J, Gallipoli P, Kordasti S, Kubasch AS, Cross M, Platzbecker U, Wiseman DH, Bonnet D, Bernard DG, Gribben JG, Rouault-Pierre K. (2023) “Vitamin B5 and Succinyl-CoA improve ineffective erythropoiesis in SF3B1 mutated myelodysplasia.” Science Translational Medicine, doi: 10.1126/scitranslmed.abn5135

 Link: https://www.science.org/doi/10.1126/scitranslmed.abn5135   

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