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I have a lot of BHMT and AHCY mutations, among others. Can you advise me?

Discussion in 'Genetic Testing and SNPs' started by Tom_Nightingale, Feb 19, 2013.

  1. roxie60

    roxie60 Senior Member

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    I also have AG on that first RS# rs13043752. I need to ck he info you read cause i have no clue the possible impact

    edit: I'm reading the rest of this thread so getting a little more info. It is interesting about the impact on protien cause Drs and I are starting to think this is a big issue for me.
     
  2. roxie60

    roxie60 Senior Member

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    I looked at that link/document but it really doesn't say too much about rs13043752 (AHCY). It is an interesting read non the less but I'm trying to understand the 'rare' aspect of this SNP and its potential impact. I love this document, finally researchers are including rs# along with GENE/SNP name. It is a long document but I did a search on the RS# and also read some about the MTHFR and CBS info, this RS# onbly shows up twice in the chart but never in the text of the doc.
     
  3. roxie60

    roxie60 Senior Member

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    Looking for the doc refered to in this comment:

    There's no concrete information that rs13043752 is pathological, even though it causes a documented protein mutation. But when a mutation is so very rare (and you're ill), I think there's a strong possibility that it causes problems. Is it rare because it's just a random mutation that almost no one has? Or is a mutation rare because it's causing problems to the extent that someone with that mutation can't pass on their genes? I think it certainly merits further investigation into your functioning of that gene, at the very least.
     
    Valentijn likes this.
  4. Valentijn

    Valentijn Activity Level: 3

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    Yeah, that was why I found that one interesting. Maybe it doesn't mean anything, but when you've got a fairly rare genotype which causes a protein replacement in a gene, plus an annoying mysterious disease, it's worth looking into. Plus there's two of us who have it so far (I don't), so that's interesting too.
     
  5. roxie60

    roxie60 Senior Member

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  6. roxie60

    roxie60 Senior Member

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    Interesting - this guy seems to think although the AG variety is rare and AA would be more significant potentially or maybe my feable brain is just not getting it today

    rs13043752 at Chr20:32346969 gave 'AG' The minor allele is 'A' with a MAF = 0.00502
    rs13043752 AHCY adenosylhomocysteinase - missense R38W
    ('i') 'AG' MAF = 0.00502 About 2% worldwide
    The change 'R38W' is uncommon - could be significant when homozygous.
     
  7. roxie60

    roxie60 Senior Member

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    still trying to find the documentation that describes this protien mutation

    edit: ok I have seen info on this one,still dont know what it means. is there a blood test to verifyif you have elevated methionine in sera??

    Defects in AHCY are a cause of hypermethioninemia [MIM:180960]. It is a disease characterized by elevated levels of methionine in the sera.
     
  8. Bluebell

    Bluebell Senior Member

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    I've never heard of that program before - looks interesting.

    There is potentially so much information in rarely-appearing phenomena.

    (I guess being a routine "outlier" leads me to have that point of view. :D )

    Although, 2% / 1 in 50 isn't so unusual.

    Ian Logan wrote that having the heterozygous allele does not seem to cause obvious health problems, but being homozygous probably could (and thus there are very few people alive in the world who are - I saw one reference that said 3 cases had been reported, and incidence was <1 in 1,000,000, but I closed some windows and lost the page before I'd copied the url):
    "A 'heterozygous result, such as 'AG' indicates a 'carrier' status, which would not be expected to give any symptoms
    whereas, a 'homozygous result, such as 'AA' indicates a complete change in the protein, and a pathological change may occur."

    from Wikipedia:
    "People with hypermethioninemia often do not show any symptoms. Some individuals with hypermethioninemia exhibit learning disabilities, mental retardation, and other neurological problems; delays in motor skills such as standing or walking; sluggishness; muscle weakness; liver problems; unusual facial features; and their breath, sweat, or urine may have a smell resembling boiled cabbage.
    Hypermethioninemia can occur with other metabolic disorders, such as homocystinuria, tyrosinemia and galactosemia, which also involve the faulty breakdown of particular molecules."
    "Inherited hypermethioninemia that is not associated with other metabolic disorders can be caused by shortages in the enzymes that break down methionine. These enzymes are produced from the MAT1A, GNMT and AHCY genes. The reactions involved in metabolizing methionine help supply some of the amino acids needed for protein production. These reactions are also involved in transferring methyl groups, consisting of a carbon atom and three hydrogen atoms, from one molecule to another (transmethylation), which is important in many cellular processes."
    "The AHCY gene provides instructions for producing the enzyme S-adenosylhomocysteine hydrolase. This enzyme converts the S-adenosyl homocysteine into the compound homocysteine. Homocysteine may be converted back to methionine or into another amino acid, cysteine.
    A deficiency of any of these enzymes results in a buildup of methionine in the body, and may cause signs and symptoms related to hypermethioninemia."
    http://en.wikipedia.org/wiki/Hypermethioninemia

    Looks like they screen newborns for hypermethioninemia: http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/MET

    Here are some tests for hypermethioninemia:
    https://www.bcm.edu/geneticlabs/test_detail.cfm?testcode=2070 (looks like they are all genetic?)

    Some info from http://www.perkinelmergenetics.com/Hypermethioninemia.htm
    "Testing
    Newborn screening of a dried blood spot using tandem mass spectrometry reveals elevated levels of methionine, which should prompt testing plasma for amino acids, including homocysteine. Elevated methionine and homocysteine in plasma indicate CBS deficiency, while an isolated increase in methionine suggests hepatic methionine adenosyltransferase deficiency. In affected patients, the presence of homocystine in the urine is a consistent finding, especially after early infancy."

    Blood test for methionine: http://www.ucdenver.edu/academics/c...s/DiagnosticTests/BGLTests/Pages/BGLtsmq.aspx

    Looks like amino acids urine tests check for methionine - such as this one:
    http://www.greatplainslaboratory.com/home/eng/urine_amino_acid.asp
     
    roxie60 likes this.
  9. roxie60

    roxie60 Senior Member

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    I have the amino acids test but no money yet to submit it. Plus I always wonder should I submit these tests when I am doing really bad or is it worth the money to submit when I doing better.
     
  10. roxie60

    roxie60 Senior Member

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    Interesting, people/companies are requesting patents using genes. not sure how I feel about that.....guess if we seemed to be making more connections between these genes and the illnesses/symptoms and coming up with repeatable solutions.....

    http://www.faqs.org/patents/app/20120277180
     
  11. Bluebell

    Bluebell Senior Member

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    Are you doing better at the moment? (I hope so.)

    Which test and testing company did you decide to go with, for the amino acids test kit?

    -------
    You wrote earlier, "I love this document, finally researchers are including rs# along with GENE/SNP name," and I so agree with you!
     
  12. roxie60

    roxie60 Senior Member

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    I am better in some symps than a few months ago....the ebb and flow experienced over the years, wish I knew why. I believe it is Great Plains lab
     
  13. Bluebell

    Bluebell Senior Member

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    Good news! The Supreme Court ruled earlier this month that companies can't patent human genes.

    http://www.nytimes.com/2013/06/14/us/supreme-court-rules-human-genes-may-not-be-patented.html?_r=0

    http://news.nationalgeographic.com/...ourt-gene-patent-ruling-human-genome-science/
     
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  14. Bluebell

    Bluebell Senior Member

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    Here are some other amino acids tests (from directlabs.com - they can be ordered without a personal doctor's intervention) -- not sure if the cost is any better than yours, or if these are as accurate as yours:

    Amino Acids, 20 bloodspot-Metametrix KIT $289.00
    Amino Acids, 20 plasma-Metametrix KIT $293.00
    Amino Acids, 40 plasma-Metametrix KIT $382.00
    Amino Acids, urine-DD KIT $299.00

    edit:
    I see that the Great Plains test is cheaper than all of those:
    Amino Acids Urine Test (24 hr or random) or Amino Acids Plasma Test $229
     
  15. Valentijn

    Valentijn Activity Level: 3

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    Ohhhh, fun one :)

    I came up with 53 rare alleles, two of which are homozygous: rs17526980 TT (kinesin 13B - KIF13B) and rs8176928 GG (deoxyribonuclease I - DNASE1).

    http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=rs17526980 shows it's a missense mutation with a protein replacement in the gene. And no one else there is TT! Okay, we've got the "Valentijn" SNP :D

    And http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=rs8176928 is also a missense mutation with a protein replacement in the gene. Again, no other GG's. "Valentijn II"?
     
    roxie60 likes this.
  16. Bluebell

    Bluebell Senior Member

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    Those Neanderthals would do anything to be famous :p
     
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  17. Valentijn

    Valentijn Activity Level: 3

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    "Valentijn II" is apparently due to an error by 23andMe - other people have that turn up too.

    But I still have my special "Valentijn I" :love:
     
  18. roxie60

    roxie60 Senior Member

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    I'm impressed, I could not even get my head around the instructions on how to generate the 'rare' report
     
  19. Star-Anise

    Star-Anise Senior Member

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    LaurieL
    Thanks for your support that you have above. I'm just wondering more specifically how to you deal with your MAO A mutation? I'm MAO A++, and quit recently after starting B12/FolicAcid & working on CBS mutation became very unstable on the 5-HTP/Tryptophan/Melatonin combo I've been on for some time. I guess Bananas are high tryptophan, and chocolate stimulates serotonin, but I crave them both, and then when I have them, I feel shitty (sometimes tired, & low mood, but more often now agitated and that tired/wired feeling). Any advice that you could provide from working with our your own mutation & how to balance this one would be so much appreciated. Star :)
     
    Beyond likes this.
  20. LaurieL

    LaurieL Senior Member

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    Hi Star,

    I mucked around with so many things to get control of my neurotransmitters and nothing I tried gave me any relief for more than a few days. I don't have the 699 CBS mutation, I have the 360 CBS. I also don't have 158 COMT either. So when I say this, it may not help you as much as it did me. But the very best thing I did was niacinamide. I have never been so neurologically even on anything else, and remain so today. I started at a high dose, because I suspected a B3 deficiency, and tapered down to 1500 mg per day. I have tried going lower, but I start to crash. I sit at this dose, and the relief has been so dramatic, I am not going to muck around with this any further, unless things change.

    I am sorry, but I can't remember anyone elses mutations. It would be helpful for me to tailor the information to you if people could put their results in the footnotes. I am just not sure if niacinamide might offer you some help in this area.

    LaurieL
     

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