Neurodevelopment Genes Encoding Olduvai Domains Link Myalgic Encephalomyelitis to Neuropsychiatric Disorders, 2025, Lidbury et al

[mariovitali]

@forestglip

A Fibromyalgia patient who also had ME symptoms has contacted me after many years. She found she has the ALDH18A1 mutation and she has issues with spastic paraplegia. From what I see this mutation leads to hyperammonemia (which she has). Taking certain aminoacids has changed her life. I instructed her to talk to her doctor for LOLA supplementation. I find the fact that searching for ALDH18A1 led me here quite interesting.

 

[mariovitali]

Thanks to AI, I found a potential association of ALDH18A1 with Hypermobile EDS.





From the study text, observe they are using Network Analysis :




Link : https://www.mdpi.com/1467-3045/47/2/134

 

[Utsikt]

Thanks to AI, I found a potential association of ALDH18A1 with Hypermobile EDS.

View attachment 28299



From the study text, observe they are using Network Analysis :


View attachment 28300

Link : https://www.mdpi.com/1467-3045/47/2/134

The sources all link back to this paper that isn’t specifically about hEDS genes.

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue - Human Genetics

Ehlers–Danlos syndrome (EDS) describes a group of clinical entities in which the connective tissue, primarily that of the skin, joint and vessels, is abnormal, although the resulting clinical manifestations can vary widely between the different historical subtypes. Many cases of hereditary...

link.springer.com

Based on the abstract, they performed genetic sequencing on patients with what they believed might have «inherited connective tissue disorders». They found someone with abnormalities in genes connected to already known diseases, like ALDH18A1, that according to google is connected to De Barsy syndrome.

I don’t know what that tells us about the relevance of ALDH18A1 for hEDS, which is in itself a very dubious concept.