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Tulane University researchers have discovered a possible genetic cause of hypermobility and associated connective tissue disorders such as Ehlers-Danlos Syndrome (EDS). The study published in the journal HellHyperactivity is linked to a folic acid deficiency caused by a variant of the MTHFR gene. This deficiency may prevent the proteins from attaching collagen to the extracellular matrix, resulting in looser connective tissue, hypermobility, and related conditions. The discovery could help doctors diagnose ADHD and excessive EDS more accurately using blood tests for elevated folic acid levels and the MTHFR gene variant. The current FDA-approved treatment, methylfolic acid, has shown promise in improving patients’ symptoms.

Scientists have linked hyperactivity to folic acid deficiency-related disorders caused by genetic variation, and have offered new diagnostic methods and therapeutic possibilities using methylated folic acid.

Tulane University researchers have discovered a possible genetic cause of hypermobility (known as double joint) and a group of associated connective tissue disorders such as Ehlers-Danlos syndrome, according to preliminary findings published April 8, 2023 in the journal Biology. 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.

For years, researchers have 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.

Jacques Corsault

Tulane University researcher Dr. Jacques Corsault (left) tests a patient for hyperkinesia. Courseault is part of a team of researchers who have discovered a possible genetic cause for hyperactivity and hyperactive Ehlers-Danlos syndrome. This discovery may, for the first time, allow for diagnosis and treatment. Credit: Photo by Rusty Costanza

“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 excessive EDS more accurately by looking for elevated folic acid levels in blood tests and the MTHFR gene 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 people with hyperkinesia is unclear. However, it can house more than half of the world’s population.

“Hyperkinesia is not uncommon,” Corsault said. “Hypermobility is like a Ferrari that requires a lot of maintenance and the best synthetic oil. After knowing the 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 – truly processed folic acid – is FDA approved and widely available.

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

Reference: “Folate-dependent hyperactivity syndrome: a proposed mechanism and diagnosis” By Jacques Corsault, Catherine Kingry, Vivian Morrison, Christiania Edström, Kelly Morell, Lisa Joubert, Victoria Elia, and Gregory Bix, Apr 8, 2023, Available Here. Hell.
DOI: 10.1016/j.heliyon.2023.e15387

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