Snps for Coagulation Defects

Dave Berg of Hemex Labs back in 1990 reported that most CFS patients have a high incidence of coagulation problems — usually genetic in origin. Getting a MD to tested for these disorders is usually very hard, and made worst by most insurance (including national insurance) not willing to pay for them unless you are having a stroke.

The following is what I have been able to track down for Coagulation SNPs on PubMed. Tomorrow — we will look at a canned set of SNPs that a different site has available.

  • Magnitude: is the risk compare to normal people (0).
  • At present, some information is hidden from download by 23andMe, the value shown is “DI” Diagnostic information
    • Check download file and https://www.23andme.com/you/explorer/snp/ – often one will read DI and the other will give the value
  • Note on getting tested for most: “Factor V Leiden mutation testing should be reserved for patients with clinically suspected thrombophilia” – Mayo labs.
    • Australia Medical Insurance: “Medicare will pay only if the pathology request identifies in writing that the patient has a personal history of venous thromboembolism. A rebate for the proven defect(s) only can also be claimed for the first degree relative of a person who has a proven defect of any of the above. A family history of venous thromboembolism alone is not sufficient. The request must specifically identify the proven defect(s).” – AKA you can’t get there from here!
  • Readings Recommended:
SNP 23andMe Links – Comments (Magnitude) My values
rs1799963 i3002432 G20210A mutation of the prothrombin F2 gene G20210A, Positive: A:A(3). A:G(3) Normal G:G ( 0.293 when controlling for other SNPs) G:G
rs6025 yes Leiden mutation, R506Q, Positive: A:A 9x risk(3.5), A:G(2.3), G:G (0) (C=3.57).
common mutation.
C:C
rs7538157 n/a BLZF1 A->C (C=2.69) n/a
rs16861990 yes NME7   A->C (C=2.02) A:A
rs2038024 yes SLC19A2    C->A (C=1.53) (impacts absorption of B1) A:A
rs2519093 n/a ABO A->T, A->C (A=1.69) n/a
rs495828 yes T->G (T=1.65) G:T
rs8176719 yes ABO blood type O allele]  ?-> C DI
rs118203905 na FV Hong Kong R306G ( G=1.59)
rs118203906 na FV Cambridge R306T( T=1.59)
rs1801020 na C46T ( T=1.63)  A->G G:G
rs2232698 yes R67X ( T=1.59) C->G, C->A G:G
rs5985 Factor Protector yes Factor Protector (2-4)  C->A  A:A
rs121909548 n/a A3845 ( T=2.277) C->G,  C->A
rs9804128 yes SNP Interaction [G on this one] A:G
rs4784379 yes SNP Interaction [A on this one] A:G

As you can see, I have the expected genetic mutation to pre-dispose myself to coagulation. As I result, I can be more specific in searching for appropriate supplements to reduce the type of risk each one creates. I can also regularly search PubMed for new articles. For example, searching for rs495828 -found 8 articles at present. For example

  • associated with angiotensin-converting enzyme (ACE) activity and inflammation .. and with enalapril-induced cough [2014]

For Rs6025, there are 35 articles. One of which states “The goodness of fit of the genetic and combined scores improved when significant SNP-SNP interaction terms were included.”[2014], i.e. the more you have, the greater the combined effect.

Unlike the latter two vectors associated with CFS, I have significant activity here. The absence of those two other factors may be why I have been able to slip from CFS to remission three times — my recovery is not hampered by those other factors.

DeTox Profile from 23andMe DNA

Yesterday I mentioned the methylation results you can get from https://geneticgenie.org, today, we will look at the 2nd analysis that they offer: Detox.

For the nerds reading this, 23andMe offers a sweet API for analyis:  https://api.23andme.com/

My results are below — a single red item in this long list, so it is unlikely that I have a significant issue here. Your results may be different.

Screen Shot 2015-01-04 at 11.52.13 AM
Again, if you have the resources to spare a few dollars as appreciation of their work, make a donation!

 

Methylation Testing via 23andMe

One of the problems many CFSer have is getting testing — especially for things at the DNA level. A lab will often charge medical insurance $1000 for such tests. The current cost of getting a human genome DNA is just $25 – talk about inefficiencies!

A recent comment asked about whether I had a methylation issue. The answer is yes, I was told that I had one according to my MD, and prescribed methylated B12. It had no apparent effect.

While researching my response, I found a site that would take my DNA results from 23andMe and do an analysis (and deeper analysis that the MD got!!).

The site is https://geneticgenie.org – they do the analysis for free (and request a token donation — if you can afford it, do so). My actual results are below. As you can see, my MD’s test likely picked the single red one below and hence concluded that I have a significant issue. Given the numbers of genes involved, many people may have one of these 26 genes being significant — it does not mean there is a problem.

Screen Shot 2015-01-04 at 11.28.47 AM

Bottom line: 23AndMe.com is a sweet testing — while they are no longer able to provide health analysis by the FDA (likely caused by patients walking into MDs office with results that 95% of MDs do not know what to do with!), alternative sites are springing up that will do it for you and give better results than your MD’s Labs… unfortunately…

Christmas and New Year reflection – pros and cons

I see I have a stack of comments as well as some phone calls to do today to some of my readers, so I will hopefully get caught up today.

Christmas can be a high risk scenario for CFS relapse

This christmas and new year ended with considerable fear in me of a potential relapse. I have been burning the candles at multiple ends (beyond both) since July with house renovations consuming weekends and weekday evenings, with practically nil time for myself.  Christmas started with pre-event stress. My wife and daughter are uber-chemical sensitive and both had flares of autoimmune that lasted months from the last family gathering attended.

On Christmas eve morning, we got a call that an over 80 close relative had been taken by ambulance to hospital. This relative usually phones before calling an ambulance — so this raised stress levels… the relative is OK now. In short the potentially CFS relapsing stressors were:

  • Stress dealing with issues of multiple over 80 relatives for which I am in the first round of support,
  • Doing dutiful eating of the wrong type of food over many days of family visits
  • Not maintaining regular exercise habit (IMHO, a key part of staying in remission)

Once we were done with seasonal activities and got home, stomach was in an upset condition, the body ache all over, waves of cold hands and feet, a decrease (but not loss of) executive decision making – more a strong preference for avoidance which is not typical for me, headaches (rare for me), psoriasis flaring badly after almost 2 years of being in remission, and 8 lb weight gain. Any (and all) of these symptoms are amber alerts for increased CFS relapse risk.

Remediation

For the last few days I have been on a 100% rye bread (no wheat gluten) and peanut butter diet (plus 1 egg/day) for breakfast, lunch and dinner, PLUS large dosages of Mutaflor (E.Coli Nissle) and bifidobacterium probiotics. I have been in the infrared sauna for an hour each day and pushing myself to do at least 1 hr of WII-fit each day. As well as these, heavy dosages of non-prescription anticoagulants(turmeric with black pepper, piracetam and other racetams, aspirin) especially fibrolytics (nattokinease, lumbrokinease, serrapetase) and 500 mg of flushing niacin (as a vasodilator).

The symptoms are decreasing quickly, including weight lost. My WII scores this morning set some new records, so the physical is coming back. Stomach is still upset a little but less so. It actually seems to become less upset after doing exercises.

Recap of Symptoms to Gut Bacteria shift

  • Increase of weight without an apparent change of diet: this implies a shift of bacteria that may:
    • Be more efficient in extracting calories from food
    • Sending signals to the body to store food (“famine signals”)
  • Body ache all over, cold extremities — this implies a shift of bacteria that sends out coagulation or vascular constriction signals (i.e. the bacteria favors low oxygen environment)
    • This is in keeping with the Berg-Hemex model/findings
  • Cognitive changes — we already know that bacteria can cause significant cognitive changes in animals and there is increasing evidence of this in human (Article)
  • Psoriasis – other autoimmune conditions will usually track with CFS risks.

Some nuggets that I found in a Christmas Present…

My wife gave me “Danish Cookbooks” by Carol Gold. This is NOT a cook book, but rather an academic study of cookbooks published in Denmark.  I’m 100% Danish and very interested in history.

I have always been inclined towards going for ancestral diet patterns, and did Paleo for a while. My problem with Paleo is that it is more idealogical based than actual (scientific) archeologically based. It is also trying to jump the diet back thousands of years which effectively ignores how our bacteria evolved to meet our changes of diet.

A diet based on typical diet of your ancestors 400 – 1400 years ago is likely a better choice. You avoid the newly introduced foods, for example, potatoes. You also avoid process foods and modern additives. On the plus side, your gut bacteria is likely closer to the optimized bacteria your ancestors evolved from eating the same food for a thousand years.

In this book, I found two gems from the historical records:

  • We have decreased the use of spice considerably — in 1600, the common spices were:
    • cumin, anise, coriander, dill, fennel, lavender, sage, rosemary, mint, bay leaves, cloves, pepper, saffron, thyme, marjoram, nutmeg, cardamon, ginger, cinnamon, hyssop, wormwood, lemon balm, angelica-root.
    • “The issue here is … the use of seasonings in general slackens” p.47
    • Many of these spices (like wormwood and ginger) have strong antibacterial characteristics which would have kept some gut bacteria families in control well.
  • “Their most common food was meat” p. 122
  • White (wheat) bread was very uncommon, expensive, and typically seen only in upper class homes on special occasions(not as part of the regular menus). It appears that most of the carbohydrates came from Rye Bread.

I am sure that some readers who favor a diet that is vegan or vegetarian on ideological grounds would object to these suggestions.  My response is simple, if your ancestors were vegetarians for centuries or millenniums (as some friends who were born in India can validly claim), then that is the right diet without any doubts.

Evidence shows that gut bacteria is inherited through generations — hence it is good to know what your ancestors ate because your gut bacteria have likely adapted to that diet. Given my heritage (which likely applies to people from the UK, Poland, northern France and Germany etc), this boils down to:

  • Rye Bread without any wheat flour
  • Meat and Fish (especially since the family seemed to always been within 5 miles of the coast back to 1500..)
  • Vegetables:

No potatoes — they really did not enter my ancestor dies until the early 1800’s – after one of my great-grandfather was born. Little or no sugar (“Worldwide through the end of the medieval period, sugar was very expensive[1] and was considered a “fine spice“,[2] but from about the year 1500, technological improvements and New World sources began turning it into a much cheaper bulk commodity.” – Wikipedia)

So I advocate not a Paleo diet, but a medieval-food diet (modified for modern nutritional perceptions).

Analysis of uBiome Results for a CFS Patient – Reducing Verrucomicrobia, Cyanobacteria and Actinobacteria

Verrucomicrobia

The third largest phylum showing a major shift is Verrucomicrobia. There is no further breakdown with biome (or should I say, just 1 class etc). It is similar to  Chlamydiae and Lentisphaerae (which are in the uBiome results) and the display suggests that chlamydiae may be aggregated into the results. Planctomycetes-Verrucomicrobia-Chlamydiae is sometimes referred to a super phylum. Chlamydia pneumonia is one of the CFS-causing infections with some sites dedicated to this theory.

Antibiotics and Verrucomicrobia

  • Reduced (in some species) by imipenem(intravenous β-lactam antibiotic) and doxycycline [2013]
  • High-level colonization of the human gut by Verrucomicrobia following broad-spectrum antibiotic treatment  [2013]

With little information, our best guess is to look at the super phylum and how to reduce that. Not an ideal situation, but the best punt with our more information. The CPN Help group has a treatment page.

Cyanobacteria

The next phylum is Cyanobacteria. Looking at the range of value reported with different diet, there is not enough clear shift to assume this is significant.

1

gut

CFS Patient X 0.43%

gut

Vegetarians 0.18%

gut

Paleo Diet 0.41%

gut

Healthy Omnivores 0.25%

gut

Vegans 0.55%

gut

Heavy Drinkers 0.51%

gut

Weight Loss 0.2%

gut

Weight Gain 0.28%

gut

Antibiotics 0.27%

gut

All Samples 0.29%

Actinobacteria

The next phylum is Actinobacteria, which has very low number as seen below.

1

gut

CFS Patient X 0.16%

gut

Vegetarians 3.01%

gut

Paleo Diet 2.37%

gut

Healthy Omnivores 2.97%

gut

Vegans 2.04%

gut

Heavy Drinkers 3.24%

gut

Weight Loss 2.78%

gut

Weight Gain 2.42%

gut

Antibiotics 2.35%

gut

All Samples 2.64%

Ubiome results breaks down into two sub-classes. Low Actinobacteridae is the one of greatest concern.

Coriobacteridae

Sample Site Group Coriobacteridae
1

gut

Your sample from Kit 901-008-644 (01 Jul 2014) 0.14%

gut

Vegetarians 0.52%

Actinobacteridae

gut CFS Patient X 0.02%

gut

Vegetarians 2.49%

gut

Paleo Diet 1.76%

gut

Healthy Omnivores 2.29%

gut

Vegans 1.68%

gut

Heavy Drinkers 2.4%

gut

Weight Loss 2.1%

gut

Weight Gain 1.76%

Streptomyces, a largest member of this class produces the following antibiotics:

This hints that the resulting very low levels of naturally produced tetracyclines resulting on overgrowth of bacteria that are inhibited by tetracyclines. This is an interesting model to consider. So what can we do to change this?

For research, there are cultures available from ATCC which has the disclaimer: “for research, not for human or animal consumption”.

The naive approach is to see how S. rimosus and  S. aureofaciens are cultured —

  • the best medium were starch, 53.313 g; defatted peanut powder, 9.376 g; (NH(4))(2)SO(4), 6.244 g; and NaCl, 5.836 g; in 1l of distilled water. [2008] – this is interesting because in my 2009 flare, I craved peanut butter and still have it as part of my regular diet.

Our old friend prescript assist, contains

  • Streptomyces fradiae produces neomycin [1965]
  • Streptomyces celluslosae – produces fungichromin [1989]
  • Streptomyces griseoflavus – produces colabomycin [1994]

I have dropped an email to the Prescript-Assist folks asking whether they can produce a Streptomycin rich probiotics. Streptomycin probiotics have been used successfully with fish [article].