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Hypermobile Ehlers Danlos Syndrome

All articles tagged with #hypermobile ehlers danlos syndrome

science11 days ago•20 min saved

Hypermobile EDS Linked to Multi-System Genetic Changes, AI Study Finds

A study of 116 people from 43 families using whole-exome sequencing and AI analysis found that hypermobile EDS likely arises from multiple genetic changes across collagen-related genes, immune system genes (notably HLA), and mitochondrial energy genes, indicating a broader genetic architecture beyond collagen alone. Immune-gene enrichment was seen in about 75% of patients, and energy/metabolism links to skeletal fragility were suggested; replication in independent populations is needed.

via Ehlers-Danlos News|

#collagen #genetics #hypermobile-ehlers-danlos-syndrome

health2 years ago•4 min saved

The Link Between Vitamin Deficiency and Hypermobile Ehlers-Danlos Syndrome.

Researchers at Tulane University School of Medicine have linked hypermobility and hypermobile Ehlers-Danlos Syndrome to a deficiency of folate caused by a variation of the MTHFR gene. The discovery could help doctors more accurately diagnose hypermobility and hypermobile EDS by looking for elevated folate levels in blood tests as well as the MTHFR genetic variant. The good news is that a treatment already exists, methylated folate, which is FDA-approved and widely available.

via Medical Xpress|

#diagnosis #folate-deficiency #health