New Atmosphere, New Vision: Gibson and Whittemore Kick Off Invest in ME Conference 2016
Mark Berry reports on Dr. Gibson's introduction and Dr. Whittemore's keynote speech, at the 11th Invest in ME International ME Conference in London.
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Chromosome 6

Discussion in 'Other Health News and Research' started by wastwater, Dec 31, 2015.

  1. wastwater

    wastwater Senior Member

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    I most likely have a deletion on chromosome 6 foxc1 6p25.I think this can be involved with immune response to EBV what could I do to correct it any ideas
     
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  2. Valentijn

    Valentijn Senior Member

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    Have you been diagnosed with Rieger Anomaly or Axenfeld-Reiger Syndrome? Or do you have some other reason to believe that you have a deletion on FOXC1?
     
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  3. wastwater

    wastwater Senior Member

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    Yes I have axenfeld riegers syndrome been tested for PITX2 that was fine so must be either FOXC1 or unknown
    Its recorded as riegers anomaly but I have all the features of axenfeld riegers syndrome,I think it could be called riegers syndrome and that would be the same thing
     
  4. Valentijn

    Valentijn Senior Member

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    So do you have a specialist for it? Is he or she not willing to give any advice?
     
  5. wastwater

    wastwater Senior Member

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    It's a bit of an orphan condition and no one seems to know much about it beyond its three main features,but I think there is a bit more to it that's worth investigating.
    Im not under a specialist for it but might ask about going back to confirm FOXC1 through testing
     
  6. wastwater

    wastwater Senior Member

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    I did wonder if it could be the basis of an inherited immunodeficiency in regards to EBV
     
  7. Valentijn

    Valentijn Senior Member

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    Probably a good idea. I don't think anyone on this forum is going to know even a small fraction of what a specialist would. There should be ophthalmologists who are at least somewhat familiar with it, and have a great deal of related eye experience (glaucoma and ocular hypertension).

    From what I can understand, the structural damage is done by the faulty gene during the embryonic stage. So it sounds like there are some treatments which can help cope with the effects of that, such as increased fluid pressure in the eye, and that is what can lead to glaucoma. Or something :p

    So your opthalmologist should be able see if pressure is a problem for you (ocular hypertension), and prescribe appropriate medications if possible, just as they would with ocular hypertension caused by other factors. But basically it's a matter of dealing with the damage which the genetic mutation has done, rather than doing anything to alter the functioning of the gene.
     
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  8. wastwater

    wastwater Senior Member

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    Thanks for taking the time to look and respond.
    The eye pressure is under control,I'm more interested in the other aspects of it that fall into research I suppose,like is the gene location involved in response to EBV.I know chromosome 6 is involved in immune response and from being in a axenfeld riegers group I know there is more going on as fibromyalgia is also a common co condition along with Autism
     
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  9. wastwater

    wastwater Senior Member

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    I saw something about interferon but don't even know what this is,so back to the research.
     
  10. wastwater

    wastwater Senior Member

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    There is interest in FOXC1 in breast cancer and Leukemia
     
  11. wastwater

    wastwater Senior Member

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    Theres no officially known immune dysfunction that comes with Axenfeld riegers so it must be a rare part of a rare disorder or part of another disorder,I wondered if it could be something to do with Digeorge.
     
  12. wastwater

    wastwater Senior Member

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    Id say there is an immune problem connected to axenfeld riegers syndrome,im not sure if it is a new immunodeficiency or a new connection of a known immunodeficiency either way id like someone to write a paper.
    If its not the real ME/cfs then its a good mimic.
     
  13. wastwater

    wastwater Senior Member

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    It maybe riegers (anomaly)syndrome 13q14 FOX01 with some vague link to leukaemia B (and T?) cells. Roll out the rituximab?
     
    Last edited: Jul 15, 2016
  14. wastwater

    wastwater Senior Member

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    Last edited: Jul 28, 2016
  15. wastwater

    wastwater Senior Member

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    FOXC1 and FOXO1A both seem to be leukaemia risk sites,Tumour surpression sites,although I haven't heard of a case of leukaemia in Axenfeld riegers syndrome. I wonder if it may effect function of B cells(and t cells?)
    http://scienceblog.cancerresearchuk...s-partner-in-crime-in-leukaemia-mystery-case/
    http://research-information.bristol...1c2a-bd64-4462-b689-264a30743cdf)/export.html
    Plenty of references to 13q14 being a leukaemia genetic risk site.
    Breast cancer is probably connected to this at 13q12-13 BRCA2
    I wouldn't mind getting the whole of chromosome 13 looked at
    Probarbly deletions at 13q12-14,i wonder how this effects cellular function,B cells and t cells?
    FOXO1A seems to be involved in metabolism and B cell signalling http://www.phosphosite.org/proteinAction.action?id=973&showAllSites=true A central regulator of metabolism in several cell types
    B cell neoplasia and MHC class 2 deficiency group B are the others of interest around these regions
     
    Last edited: Aug 3, 2016
  16. wastwater

    wastwater Senior Member

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    I know no one will have riegers,but is this region of chromosome 13 in general important,taking a wider look BRCA2 is there and it seems to be a region for B cell stuff and metabolism.
     
  17. wastwater

    wastwater Senior Member

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    FOXO is mentioned in connection to dauer.
     
    Last edited: Sep 2, 2016
  18. wastwater

    wastwater Senior Member

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    Genetics then metabolism then immune
     
  19. wastwater

    wastwater Senior Member

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    someone with elher danlos has just joined the axenfeld rieger syndrome group so I guess they can exist together
     
  20. wastwater

    wastwater Senior Member

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    I think FOXO1A does match up with the latest ME/Cfs research
     

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