https://www.futurity.org/ehlers-danlos-syndrome-2904142-2/
"You may know someone with overly flexible joints, a friend or family member
who can easily slide into a split or bend limbs to impossible angles. But
hypermobility is a more serious condition than being “double-jointed.”
For those with hypermobile Ehlers-Danlos syndrome (EDS), the same conditions
that create fragile connective tissue can cause a range of symptoms that, on
the surface, can seem unrelated: physical conditions such as joint pain,
chronic fatigue, thin tooth enamel, dizziness, digestive trouble, and
migraines; and psychiatric disorders, such as anxiety and depression. Women
with hypermobile EDS may also be at increased risk for endometriosis or uterine
fibroids.
For years, researchers have struggled to find the cause of hypermobility and
hypermobile EDS. Of the 13 subtypes of EDS, hypermobile EDS comprises more than
90% of the cases. But until this study, hypermobile EDS was the only subtype
without a known genetic correlate. As a result, symptoms have often been
treated individually rather than as the result of a single cause.
Researchers at Tulane University School of Medicine have linked hypermobility
to a deficiency of folate—the natural form of vitamin B9—caused by a variation
of the MTHFR gene. The preliminary findings appear in the journal Heliyon.
“You’ve got millions of people that likely have this, and until now, there’s
been no known cause we’ve known to treat,” says Gregory Bix, director of the
Tulane University Clinical Neuroscience Research Center. “It’s a big deal.”
Those with this genetic variant can’t metabolize folate, which causes
unmetabolized folate to accumulate in the bloodstream. The folate deficiency
may prevent key proteins from binding collagen to the extracellular matrix.
This results in more elastic connective tissue, hypermobility, and a potential
cascade of associated conditions.
The discovery could help doctors more accurately diagnose hypermobility and
hypermobile EDS by looking for elevated folate levels in blood tests and the
MTHFR genetic variant."
Via Rixty Dixet.
Cheers,
*** Xanni ***
--
mailto:xanni@xanadu.net Andrew Pam
http://xanadu.com.au/ Chief Scientist, Xanadu
https://glasswings.com.au/ Partner, Glass Wings
https://sericyb.com.au/ Manager, Serious Cybernetics
