Ehlers Danlos Syndrome Update

More on the role of MMP, possible diagnostics, and dietary therapeutics PREMIUM CONTENT subscriber access

Researchers of hypermobility seek a genetic cause for these connective tissue disorders, especially hypermobile type III Ehlers-Danlos syndrome. This is the only subtype still without a known genetic correlate. New research now links hypermobility to a deficiency of methyl folate caused by a variation of the MTHFR gene.

Folates are a family of B9 vitamins necessary for cellular processes such as nucleotide synthesis for cell division and DNA repair, regulation of cellular oxidation and reduction reactions, and epigenetic regulation. Most dietary folates exist in their reduced state, 5-methylTHF, but they are also found as dihydrofolate (DHF), tetrahydrofolate (THF), and others, depending on their place in the folate metabolic pathways.

Metabolism of folate and folic acid through the one-carbon pathway. DHFR: dihydrofolate reductase; THF: tetrahydrofolate; 5–10 MTHF: 5–10 methylene tetrahydrofolate; MTHFR: methylenetetrahydrofolate reductase; 5-MTHF: 5-methyl tetrahydrofolate; Vit B12: Vitamin B12, a cofactor for methionine synthase. Credit: Heliyon (2023). DOI: 10.1016/j.heliyon.2023.e15387