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SNP rs13078881 mutation – Pathogenic for Biotindase deficiency

Discussion in 'Genetic Testing and SNPs' started by BeautifulDay, Sep 20, 2017.

  1. BeautifulDay

    BeautifulDay Senior Member

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    A few of our family members are heterozygous for rs13078881. Enlis puts the Allele Frequency at 3.17%.

    Many of the studies regarding this mutation are focused on the homozygous mutation population and Biotindase deficiency. My focus as the caretaker for 5 of us with CFS is to make sure we get everyone in our family with CFS to be at their best by tweaking items within our control to see if such tweaks help with the symptoms.

    The interesting thing for heterozygotes of this mutation is not that they are considered carriers of a biotinidase deficiency mutation, but that there is a known significant loss of the enzyme (SNPedia has articles placing the mutation with 48% of normal enzyme activity and 52% loss of enzymatic activity). https://www.snpedia.com/index.php/Rs13078881

    So while people may view this genetic mutation as requiring two copies to be detrimental, this mom saw an opportunity to make sure the carriers in our family were taking biotin supplements. It only takes a tiny amount of biotin to reach the recommended daily allowance. I’m not one for overdoing vitamins and supplements. I haven’t given biotin to those without this mutation. Biotin is a water soluble B vitamin.

    In our very un-scientific study of family members, the family members with this mutation believe the little supplements of biotin a day are providing a step up in energy levels and a reduction in muscle weakness. There are many flaws in this at home study, one being that each individual knew they were being given the supplement. Could there have been a mental kick for them – maybe? But in a family of CFS, I’ll take the uptick either way.

    Of course, had there been any issues with the biotin supplements, it would have been stopped immediately.
     
  2. helen1

    helen1 Senior Member

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    I'm interested in your experiment as I've been trying out biotin for hair loss. Still not sure if it's having an effect...

    Apart from those SNPs, biotin depletion can also be caused by trazadone, yeast gut overgrowth and not eating main biotin sources (egg whites and dairy).

    But taking biotin without the other B vits can be a problem as biotin depletes Vit B5. Also appears to deplete melatonin.

    @BeautifulDay
     
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  3. Valentijn

    Valentijn WE ARE KINA

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    It's viewed as requiring two copies because biotindase, like many other enzymes, is known to do its job just as sufficiently at 50% activity as it does at 100%.

    That means that the heterozygous rate is actually 6.1%, and it goes up to 7.4% in populations with European ancestry. That is far too common for it to have any involvement in ME/CFS symptoms.

    Which isn't to say that supplementation of a normal amount (eg, a multivitamin) is going to hurt. But as long as biotin intake and processing (HLCS gene, etc) are normal, slowed biotin recycling isn't a problem.
     
  4. BeautifulDay

    BeautifulDay Senior Member

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    @helen1 Thank you for responding. I went back and tried to find the scientific studies on the relationship between biotin and B5 and I couldn't find anything exactly on point. If you have the scientific article(s) on the relationship, please post it (them). I'd be very interested in exploring this further. I found a lot of health advice in dermatology magazines and lifestyle articles, but I'm looking for the actual studies.

    I worry that some journalists learn that Biotin Deficiency can result in hair loss/thin hair, and they then make the leap to recommending it to everyone with hair loss.

    I have read a few scientific articles on how too much vitamin B5 can interfere with biotin absorption and how B5 and biotin compete for uptake. In that case, someone who is low on biotin might not need B5. Everyone is so unique. It's finding that right fit for you.

    There is a case report of life-threatening eosinophilic pleuropericardial effusion in an elderly woman who took a combination of 10 mg/day of biotin and 300 mg/day of vitamin B5 for two months. It's just something to be aware of and it is just one case. I'm a big proponent of starting slowly with any new supplement to watch for any adverse reactions. https://www.ncbi.nlm.nih.gov/pubmed/11302404
     
  5. BeautifulDay

    BeautifulDay Senior Member

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    Good morning @Valentijn

    Do people on PR have a preference for Genotype Frequency over Allele Frequency when posting? I can use whichever one is more common place on PR. When the Hardy-Weinberg Law applies, it's easy to do the calculation back and forth. And of course, when it doesn't apply (for example when homozygous infants do not survive or when there has been inbreeding etc), then it's pretty easy to pick up on the difference.

    Biotin deficiency is very rare because it is synthesized by bacteria living in healthy large intestines (the wall of large intestine has a specialized process for the uptake of biotin).

    I'm not a carrier for this mutation. My husband has it and has passed it onto ... Finally, a mutation I've not given the kids. My husband has severe ulcerate colitis with hundreds of polyps in his colon. His absorption of nutrients through his intestines is compromised anyways, so add in a mutation that normally doesn't impact people, and this might be the thing that helps him (even if just a little). Of course, we've run it by his gastroenterologist and his endocrinologist and they are all for our little test.

    As for the children with the combination of Mitochondrial Disease and this mutation, I've been told by our MitoD doctors that when you have low energy mito in every cell in the body and then you have a recessive gene that causes a reduction of an enzyme or protein, but not enough that it impacts most people -- that for people with MitoD, that those recessive losses can be brought to impact MitoD patients. That's why MitoD doctors study both the dominant and the recessive mutations. They are finding that pathogenic recessive mutations can have a negative impact on those with known MitoD dominant mutations.
     
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  6. Valentijn

    Valentijn WE ARE KINA

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    Has there been any research published about this? Would biotin levels be expected to be low in a blood test?
     
  7. BeautifulDay

    BeautifulDay Senior Member

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    Great question. I don't know. I'll research it later when I have more time. It's what I've been told by several MitoD doctors and also was pertinent at the recent Mito Conference.

    As to biotin levels in the blood, I went back through our blood tests and didn't find one of us ever tested for it. I've put this on the list to add to any future blood tests the doctors order. In our family, there is always someone with an upcoming doctors appointment. Ughhhh.

    I hope you have a great day! I'll be running the rest of the day (and through the week). Kids activities and low energy. It's time to go wait in the drop off line and take a nap in the car (again). :bang-head:
     
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  8. ukxmrv

    ukxmrv Senior Member

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    @BeautifulDay

    Thanks for posting this information about your family. It's good to hear that you are finding something to help

    May I ask what CFS symptoms your family members have? Did their CFS develop after a virus or out of the blue suddenly or gradually over time?

    (thanks as well for the extra info on your husbands colitis as I was going to ask what other diseases or conditions the family has)

    The info may be of use to other families with CFS running through them I hope.
     

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