Ehlers-Danlos syndrome is a genetic disorder affecting one in 5,000 people. It affects the production of collagen, a protein essential for the structure and elasticity of connective tissues throughout the body. People with this syndrome often have joint hypermobility and stretchy, fragile skin. They “are mainly due to anomalies in the biosynthesis and/or structure of proteins in the extracellular matrix”, can we read on the website of l’Union Nationale des Syndromes d’Ehlers-Danlos (UNSED). This hereditary disease can have a significant impact on patients’ quality of life.
The importance of vitamin B9 in the production of genetic material
“Millions of people probably have it and, so far, there is no known cause that we can treat. It is a major problem,” said Gregory Bix, director of the Center for Clinical Neuroscience Research at Tulane University in the United States. In a study published in the journal Heliyon, The scientist and his team hypothesized that joint hypermobility could depend on folate status. Ehlers-Danlos syndrome could be associated with a vitamin B9 deficiency. As a reminder, vitamin B9 is absolutely necessary to ensure certain body functions, including the production of genetic material, according to Anses.
Folate deficiency due to variation in the MTHFR gene
For this study, the researchers followed adults with Ehlers-Danlos syndrome. They analyzed the results of their blood tests showing high levels of unmetabolized folate.
Scientists then discovered that patients carrying a variation of the methylenetetrahydrofolate reductase (MTHFR) gene could not metabolize folate. As a result, there was a buildup of unmetabolized folate in the bloodstream. “Folate deficiency can prevent key proteins from binding collagen to the extracellular matrix, resulting in more elastic connective tissue, hypermobility and a potential cascade of associated pathologies,” the researchers explained in a statement.
Diagnosis and treatment of Ehlers-Danlos syndrome
This discovery could help doctors more accurately diagnose joint hypermobility by looking for high levels of folate in the blood and also the MTHFR genetic variation. “Hypermobility is not uncommon. Hypermobility is like a Ferrari that requires a lot of maintenance and the best synthetic oil,” added Jacques Courseault, author of the work.
The researchers said there was a treatment available to combat vitamin B9 deficiency. “It is not dangerous and it is a vitamin that can improve people’s lives,” explained Gregory Bix. It turns out that patients who received this treatment had less pain, fewer allergies, improved gastrointestinal function and reduced brain fog.
