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Folate and folic acid metabolism through the one-carbon pathway. DHFR: dihydrofolate reductase. THF: tetrahydrofolate. 5-10 MTHF: 5-10 methylene tetrahydrofolate; MTHFR: methylenetetrahydrofolate reductase; 5-MTHF: 5-methyltetrahydrofolate; Vitamin B12: Vitamin B12, a cofactor for methionine synthesis. credit: Hell (2023). DOI: 10.1016/j.heliyon.2023.e15387

Tulane University researchers have discovered a possible genetic cause of hypermobility (known as double joint) and a host of associated connective tissue disorders such as hypermobility Ehlers-Danlos syndrome, according to preliminary findings published in the journal Arthritis. Hell.

You may know someone with extremely flexible joints, or a friend or family member who can easily slip into a split or bend limbs to impossible angles. But hypermobility is a more serious condition than ‘double joint’.

For those with hypermobile Ehlers-Danlos syndrome (EDS), the same conditions that create brittle connective tissue can cause a host of symptoms that may seem unrelated on the surface: physical conditions such as joint pain, chronic fatigue, thinning tooth enamel, dizziness And digestive problems and migraines. and mental disorders such as anxiety and depression. Women with hypermobile EDS may also be at increased risk of developing endometriosis or uterine fibroids.

Researchers have long struggled to find the cause of hyperkinesis and EDS hyperactivity. Among the 13 subtypes of EDS, ultramobile EDS comprises more than 90% of cases. But until this study, Hypermobile EDS was the only subtype with no known genetic link. As a result, symptoms are often treated individually rather than as a result of a single cause.

Researchers at Tulane University School of Medicine have linked hyperactivity to a deficiency of folic acid — the natural form of vitamin B9 — caused by a variation of the MTHFR gene.

“You have millions of people who potentially have this, and as of right now, there is no known cause that is known to treat,” said Dr. Gregory Bix, director of the Clinical Neuroscience Research Center at Tulane University. “It’s a big deal.”

Those with this genetic variant cannot metabolize folic acid, causing unmetabolized folic acid to build up in the bloodstream. Folic acid deficiency may prevent key proteins from attaching collagen to the extracellular matrix. This results in looser connective tissue, hypermobility, and a possible series of associated conditions.

This discovery could help doctors diagnose ADHD and hypermobility EDS more accurately by looking for elevated folic acid levels in blood tests in addition to the MTHFR genetic variant.

“Hypermobility is widespread and, unfortunately, not adequately recognized,” said Dr. Jacques Corsault, medical director of the Tulane Vasia Institute and Treatment Center. “I’m excited to be able to heal the masses where people don’t spend their entire lives frustrated and not getting the treatment they need.”

Previously, hyperkinesia could only be diagnosed by the Beighton score, a somewhat controversial physical test that involved measuring the curvature of the spine, fingers, and extremities. Besides the historical lack of acceptance of hyperkinesia as a distinct body type that requires specialized treatment, the number of hyperkinetic people is unclear, although it could comprise more than half of the world’s population.

“Hyperactivity is not rare,” Corsault said. “Hypermobility is like a Ferrari with a lot of maintenance and the best synthetic oil. After knowing a patient’s name and date of birth, I think it would be wise for doctors to know what body type they have.”

Doctors discovered the connection between folic acid deficiency and the MTHFR gene by working with patients at the Tulane Hypermobility Clinic and the Ehlers-Danlos Clinic, the only clinic in the United States focused on fascicular disorders. Blood tests of ADHD patients who showed signs of associated medical conditions revealed elevated levels of unmetabolized folic acid. Subsequent testing showed that most of those with elevated folic acid levels had a genetic polymorphism.

The good news is that a cure does exist. Methylated folic acid – folic acid that has already been processed – has been approved and widely available by the FDA.

“It’s a harmless treatment,” Becks said. “It’s not dangerous, and it’s a vitamin that can improve people’s lives. That’s the most important thing: We know what’s going on here, and we can treat it.”

Although Courseault said more lab research and clinical testing needed to be done, patients treated with folic acid showed improvement: less pain, less brain fog, less sensitivity, and improved digestive function.

“We’ve discovered something in medicine that can help, not just a small group of people, but potentially many, all over the world,” Corsault said. “This is real, it has been well tested and we clinically notice a difference.”

more information:
Jacques Corsault et al., Folate-dependent hyperkinetic syndrome: proposed mechanism and diagnosis, Hell (2023). DOI: 10.1016/j.heliyon.2023.e15387

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