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The easiest breakthough possible: MBL deficiency and CFS

Discussion in 'Action Alerts and Advocacy' started by Leitwolf, Aug 7, 2011.

  1. Jenny

    Jenny Senior Member

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    I saw my immunologist again today and had a bit more of a discussion about MBL deficiency. He told me I am homozygous and so have none at all. This is not particularly unusual though - around 1 in 600 have none.

    He said that because of its short half life, it has to be infused every couple of days. So they only do this for people with life threatening infections. For others, they treat each infection arising as a result of this immune deficiency with antibiotics and anti-virals. He agreed that it was possibly a factor in ME (I don't think he had really considered it before, as he's not really an ME specialist). And he also agreed to increase my Valtrex dose and test me for various viral infections, including CMV and HHV6.

    So all quite interesting. I'll contact the UK ME Association and ask if they will encourage the NHS to test ME patients for this.

    Jenny
    merylg likes this.
  2. eric_s

    eric_s Senior Member

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    I will have blood drawn soon for some other tests and i will see if i can get tested for MBL as well. I will let you know and if it looks promising i will try to get more people tested.
  3. eric_s

    eric_s Senior Member

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    I don't know much about this, but anything about Natural Killer cells probably is interesting. I've heard "CD57" is an interesting marker there. And "CD5" in CD8 cells. Also MxA and RNase-L. But don't take my word, unless insurance pays it all ;-)
  4. Leitwolf

    Leitwolf

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    @Sickofcfs

    MBL serum concentration is the essential test. If you are lacking MBL there will be no need to find out if the pathway function works, appearently..

    By the way, I have a price list of possible tests of a german lab here:
    http://www.imd-berlin.de/filesv/fa014be_v02_spez_immundiagnostik_privatp.pdf

    According to this brochure a MBL serum test will cost 32,18 Euros. I have no idea how much it will be in the US, but it should be affordable.
  5. Jenny

    Jenny Senior Member

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    In the light of the recent Rituximab trial, and the suggestion that ME might be an autoimmune disease, it's interesting that MBL deficiency makes one more susceptible to autoimmune diseases. See Leela's post and below:

    http://www.bio.davidson.edu/courses/immunology/Students/spring2006/Mohr/MBL.html


    If MBL is involved in clearing away bacteria and other pathogens, why is MBL deficiency associated with autoimmune diseases such as lupus and rheumatoid arthritis? The immune system has redundant pathways that all have the same function so that if one is not working well, the immune system can still operate. For example, the classical, MB-lectin, and alternative pathway all make a C3 convertase which leads to oposinzation of pathogens, recruitment of inflammatory cells, and killing of pathogens (see Fig. 4). If the MB-lectin pathway is not working well due to MBL deficiency, the immune system compensates by increasing activation via the other pathways. Most notable is the increase in antibody concentration, used in the classical pathway. Studies have shown an increase in serum levels of IgM antibody concentrations in MBL deficient patients with rheumatoid arthritis. The more antibody, the higher the chance that some antibody will be self-reactive, which is what happens in arthritis( Jacobsen, 2001).
    merylg and taniaaust1 like this.
  6. Jenny

    Jenny Senior Member

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    A few months ago I said I would contact the UK ME Association to see if they could encourage testing for MBL deficiency.

    I haven't had much luck. Their doctor (Charles Shepherd) got back to me and asked who my consultant was so that he might follow it up but recently said he was too busy to do anything at the moment.

    I also contacted Action for ME, who just suggested I put something on their facebook page, and their forum. But there are plenty of more active forums to use if we were to try to get more attention to this.

    Has anyone else been tested for mannose binding lectin deficiency?

    Jenny
  7. Uno

    Uno Senior Member

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    Not heard of that one...doesn't surprise me about AFME or the MEA when it comes to research proposals they are so lacklusture.

    I'll speak to some people Stateside and see if they have been tested.
  8. Crow Nek

    Crow Nek

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    Hello everybody,

    Nice to see that this very interesting discussion is not dead yet. I am like most of you born with an MBL-deficancy (homozygous like Jenny, meaning no MBL at all) and have been "diagnosed" with CFS as well, since I have a big problem with constant fatique and recurrent minor infections. Without going into details, especially the everyday fatique is having a strong impact on my life and is giving me a damn hard time for a couple of years now.

    I ended up with same intriguing theory/suspicion, that at least some people in the CFS-Pool suffer these problems because they have the MBL-Deficancy. So i contacted Leitwolf who started this thread via pm a few weeks ago to ask how his general progress with his idea about the connection between CFS and MBL-Deficiancy developed but unfortunately did not receive any answer. So: Ill be happy to join in on the debatte and do something to get some useful results/hints.

    How is the CFS and the MBL deficiancy affecting you all? What are your conditions?

    Sincerely,
    Crow Nek
  9. Aileen

    Aileen Senior Member

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    I have been reading this thread with interest as it is something I've not come across before. From what I've researched on the symptoms of MBL deficiency it seems that the person gets very frequent infections starting as a young child. Does this apply to those of you who have been tested and found to be deficient?

    Prior to developing M.E. I was very healthy and rarely even caught a cold so perhaps it is not worth my while to get tested.
    taniaaust1 likes this.
  10. Jenny

    Jenny Senior Member

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    I had frequent infections until I had my tonsils and adenoids removed, aged 5. After that, only the average number. My doc says that if the lack of MBL was affecting me I'd have had lots of serous infections.

    Very little is known about MBL so I think it's worth investigating further in relation to ME.
    taniaaust1 likes this.
  11. Jenny

    Jenny Senior Member

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    Welcome Crow Nek - glad you've resurrected this thread.
  12. Aileen

    Aileen Senior Member

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    Thanks Jenny. It sounds as though if MBL is a factor for at least some of us, it would be MBL-dysfunction rather than an actual deficiency. So, until someone actually does a study on us it seems like a waste to go get tested because we won't know what we are looking for or if a test for that particular problem actually exists. :(
  13. Jenny

    Jenny Senior Member

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    Can you have MBL dysfunction? I thought it was just something that people had varying amounts of. But I know very little about it.
  14. Adster

    Adster Senior Member

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    Just resurrecting this thread as I have found I have very low levels of MBL. Sadly it looks like infusions are not readily available? I'd love to know if anyone knows differently. Cheers.
  15. Jenny

    Jenny Senior Member

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    My immunologist told me that to make a difference one would have to have infusions twice a week, and that would be very expensive. And not enough is known about MBL deficiency to merit giving them.

    Incidentally, I read a report a few months ago (may have been a paper at the Invest in ME conference) that showed that MBL levels were significantly lower in a group of ME patients as compared with controls. I've never seen any other research that looked at MBL in ME.
    merylg likes this.
  16. Adster

    Adster Senior Member

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    It will be interesting to see what studies come out about this over the next few years. I guess for now it's just a matter of supporting the immune system where possible. Cheers :)
    taniaaust1 likes this.
  17. alex3619

    alex3619 Senior Member

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    This is approximately the split in patient responses in the Light's or Rituximab research. It might be just coincidence, but we need to know.
    merylg and taniaaust1 like this.
  18. taniaaust1

    taniaaust1 Senior Member

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    Has anyone with ME/CFS in Australia had this test done?

    Im currently trying to find out if its done in my state (so far I can see the Royal Melbourne hospital, Victorian Infectious Diseases Services.. has some research on MBL deficiency so I guess they test there).
    ..............

    Now it would be very interesting to know the rate of this in the ME group.
    merylg likes this.
  19. Adster

    Adster Senior Member

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    Melbourne Pathology do the MBL serum test, but they send the blood to PathWest for the actual analysis.
  20. Hip

    Hip Senior Member

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    Leitwolf

    In terms of your very interesting research initiative so see if ME/CFS patients may have MBL deficiency: in addition to trying to get people to do a €30 MBL deficiency test, you could also look at the gene results of the ME/CFS patients on this forum, and see which people here have the gene mutations (polymorphisms) that lead to MBL deficiency.

    Many people here, including myself, have already had their genes tested using the $99 test offered by www.23andme.com. Anyone who has had this 23andme test done will have a data file containing a list of nearly 1 million of their personal SNP gene mutations. (For those who have done the 23andme test: you raw data file can be viewed online HERE — just enter the SNP rsid. Your raw data file can be downloaded from HERE; this text file can be opened in any word processor or text editor, though it is a large file, with nearly one million lines of text, one line for each SNP test result.)

    If you look at this study, it says that: "Mannan-binding lectin deficiencies are caused partly by three single nucleotide polymorphisms (SNPs) in the first exon of the gene: MBL2*D (Arg52Cys), B (Gly54Asp) and C (Gly57Glu)."

    Now a quick check on the SNPedia database reveals that:

    Arg52Cys corresponds to the SNP Rs5030737
    Gly54Asp corresponds to the SNP Rs1800450
    Gly57Glu corresponds to the SNP Rs1800451

    A quick check in my 23andme data file shows that the first two SNPs (Rs5030737 and Rs1800450) are present in my data file, but unfortunately the last one (Rs1800451) is not.

    So I can instantly give you my own genetic test results for these first two SNPs, straight from my 23andme test results data file:


    RSID - - - - - - GENOTYPE
    ————————————————————————————
    Rs5030737 - - - - AG
    Rs1800450 - - - - CC
    Rs1800451 - - - - Not present

    The AG and CC you see are from the four DNA bases (adenine, guanine, thymine and cytosine), and those are the actual DNA bases that I have in my genome in the SNP locations of Rs5030737 and Rs1800450.

    Now there is a way of knowing whether these AG and CC bases that I have in my SNPs corresponds to the polymorphisms that cause the MBL deficiency or not. Unfortunately, however, I don't have the expertise to tell you whether these AG and CC are the MBL deficiency polymorphisms (mutations) or not.

    But there are quite a few people on this forum who know more about SNP results interpretation than I do, and they may be able to tell you how to properly interpret these results, and say whether a person's gene results show MBL deficiency polymorphisms or not.


    Everyone on this forum who has had their genes tested by 23andme will have this data available, and many people here have been gene tested, so you should have access to lots of data.
    Asklipia, Jenny and leela like this.

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