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Chromosome 6

wastwater

Senior Member
Messages
1,271
Location
uk
I have a rare genetic disorder riegers syndrome and someone else who has it managed to get a whole genome scan,
and only faults came back on chromosome 6,
IRF4 was one gene that was mentioned
AS I think riegers syndrome,for some,maybe 20 percent,seems to come with an immune problem very much like ME/cfs with fibromyalgia being the most common diagnosis
This is what raised my interest
For completeness the other genes were HUS1B FOXQ1/F2 and C1 plus GMDS that has something to do with NADP+
FOXF2 blood brain barrier formation and other tissues
 
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wastwater

Senior Member
Messages
1,271
Location
uk
IRF4 (MUM1) is interferon regulatory factor 4 (T helper cells th2 th17 th9 )
GMDS is GDP-manose 4,6-dehydratase ,I think this can be involved in congenital disorders of glycosylation,im not sure what glycosylation is but have seen it mentioned on PR
might be involved in glucose and carbohydrate use
human gdp-mannose 4,6-dehydratase polypeptide shares 61% identity with the enzyme from e coli, I wonder could the immune system cross react and target them both
 
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wastwater

Senior Member
Messages
1,271
Location
uk
Found this paper in Oxford academic human molecular genetics
FOXC1 is required for cell viability and resistance to oxidative stress in the eye through the transcriptional regulation of FOXO1A
 

wastwater

Senior Member
Messages
1,271
Location
uk
I saw this on YouTube LOM612 and think it’s this Isothiazolonaphthoquinone
Small molecule activator of FOXO
And possibly methylselenic acid (selenium)
 

wastwater

Senior Member
Messages
1,271
Location
uk
PRDM5 is linked to EDS and ARS
Irf4 htlv paper out 7 days ago
 
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wastwater

Senior Member
Messages
1,271
Location
uk
Foxc1 regulates foxo1a that regulates IDO2
Interestingly EBV also downregulates foxo1a
Heat shock protein 70 HSP6A was other thing effected by foxc1 of interest
 
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wastwater

Senior Member
Messages
1,271
Location
uk
There seems to be a spectrum of FOXC1 conditions from cancer(high)?to immune (low)?
This is how many people could have FOXC1 dosage problem,from there a lot of pathways lead to things ive seen mentioned in ME
FOXC1 is fairly well studied and is of interest in breast cancer,that may explain the gender bias
 
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