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Dr. Diana, both a doctor (therapeutic optometrist), and a recovered POTS and ME/CFS patient, offers help and hope for POTS, Dysautonomia, Ehlers-Danlos syndrome, Chronic Fatigue, Chronic Lyme, vascular abnormalities, Fibromyalgia, and Multiple Sclerosis. Dr. Diana is now working full time at POTS Care.

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CBS gene mutations being investigated in Ehlers-Danlos.

NEW STUDY! Parasym Plus™ for Multiple Sclerosis › Forums › PrettyIll.com Discussion › EDS/MS/Chiari › CBS gene mutations being investigated in Ehlers-Danlos.

  • This topic has 13 replies, 5 voices, and was last updated 10 years ago by Dr. Diana.
Viewing 14 posts - 1 through 14 (of 14 total)
  • Author
    Posts
  • December 14, 2012 at 2:51 am #367
    SweetFeather
    Participant

    I have two CBS mutations. When I looked the CBS genes up it was noted they are being investigated in…. Ehlers-Danlos!
    CBS gene mutations are involved in methylation.

    What is “The Methylation Pathway”?????:
    http://www.autismnti.com/yourbodyschemistry.html

    http://snpedia.com/index.php/Yasko_Methylation
    “CBS Gene
    rs234706 – CBS C699T (Risk Allele: A) “Being investigated in Ehlers-Danlos syndrome”
    rs1801181 – CBS A360A (Risk Allele: T, 23andMe: A) “Being investigated in Ehlers-Danlos syndrome”
    rs2298758 – CBS I278T (Risk Allele: G) “Being investigated in Ehlers-Danlos syndrome”

    “CBS Gene: Limits homocystine into downstream path. People with CBS mutations will need to be careful with sulfur containing supplements. Increased risk for ammonia detoxification issues. Puts a burden on SUOX.”
    http://snpedia.com/index.php/Rs234706
    http://snpedia.com/index.php/Rs1801181
    http://snpedia.com/index.php/Rs2298758

    This is a Gene test for Marfan/TAAD which is listed under the heading “Ehlers-Danlos” and it includes CBS.
    http://www.genedx.com/test-catalog/disorders/ehlers-danlos-syndrome/marfan-syndrometaad-sequencing-panel/
    Genes on this test: ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2

    Read more about CBS mutations:
    http://www.heartfixer.com/AMRI-Nutrigenomics.htm

    Anyone else have CBS mutations?

    Dr. Diana, do you think the sulfur load could be similar to a barrel effect like with histamine? Maybe some patients who haven’t done well on Diamox have CBS mutations and are already over-burdened with sulfur. I wonder if they limited other sulfur sources and got their methylation working better if they might be able to tolerate the Diamox? Hmmmm…. I haven’t tried it yet because I’m so allergic to… sulfa antibiotics but maybe a trial under my allergist’s supervision will be in my future after all. Thoughts?

    December 14, 2012 at 3:31 am #3212
    SweetFeather
    Participant

    http://www.genecards.org/cgi-bin/carddisp.pl?gene=CBS

    “OMIM gene information: 613381 OMIM disorders: 236200
    UniProtKB/Swiss-Prot: CBS_HUMAN, P35520
    Defects in CBS are the cause of cystathionine beta-synthase deficiency (CBSD) [MIM:236200]. CBSD is an
    enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated
    homocystinuria due to CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling
    Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include
    increased urinary homocystine and methionine.”

    December 15, 2012 at 5:29 am #3214
    jillMEnz
    Participant

    Sweet feather : Is diamox contra indicated if one has sulpha allery?

    Weirdly I have sulpher antibiotic allery too and Johns Hopkins pediatricain said I had EDS, but NZ geneticist said I didn’t tick enough boxes but then he didn’t know about the POTs in EDS either, nor the sleep apnea in Marfans I’m guessing. My Al (whi I suspect has marfans , is seeing same geneticist so I hunted the net to find out what tests they *should * do, one was a sleep study. Apparently a lot of Marfans have apnea – not snoring kind though.

    December 15, 2012 at 10:16 am #3215
    Give My Daughter the Shot!
    Participant

    I have sulfa allergy (sidenote).

    Re: MTHFR: I have both high homocysteine and high B12 – chronically. It appears that these two phenomenon do not coexist.

    Any suggestions?

    Among other bloodwork abnormalities.

    December 15, 2012 at 2:19 pm #3217
    SweetFeather
    Participant

    jiiiMEnz, I’m hoping Dr. Diana will have a chance to chime in here! She has said that some with sulfa allergies tolerate it but you must discuss this with your physician and let them decide if you could do a doctor-supervised trial.

    A PubMed search:

    Evidently, “It’s a not so simple story”

    http://www.ncbi.nlm.nih.gov/pubmed/21190500
    High Alt Med Biol. 2010 Winter;11(4):319-23. doi: 10.1089/ham.2010.1051.
    “Acetazolamide and sulfonamide allergy: a not so simple story.”
    “We also examine the different clinical presentations of allergy and adverse reactions, from simple cutaneous reactions with no sequelae through Stevens-Johnson syndrome and anaphylaxis, with risk for significant morbidity and mortality. We offer a systematic approach to determine whether acetazolamide is a safe option for those with a history of allergy to sulfonamides.”

    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1783707/
    Can Fam Physician. 2006 November 10; 52(11): 1434–1438.
    PMCID: PMC1783707
    “Approach to managing patients with sulfa allergy.”

    December 15, 2012 at 4:00 pm #3218
    SweetFeather
    Participant

    Give My Daughter The Shot!, 23andMe testing just dropped to $99 plus shipping because they’ve received $50 million in additional funding and they are trying to reach a million people. The NIH recently awarded them over a half million dollars for three research projects… one on allergy and asthma. YAH!!!!

    I had dismissed MTHFR before…. thinking “neural tube defects don’t run in my family” but the methylation pathway involves so much more than MTHFR and neural tube defects. Homocysteine and B12 are involved and having high levels of both… can be an indication of MTHFR and other methylation pathway mutations.

    Google:
    Dr. Amy Yasko (she’s the main researcher behind the methylation pathway and whose protocol is the base for the other “simplified” versions) she has videos, testing, proprietary and other supplements.) Her book “Autism: Pathways To Recovery” is free for download on her website. Methylation Pathways mutations don’t just cause autism… it depends on when the methylation pathway breaks down! Her previous book was called “Genetic Bypass” and I think she’d reach more people with a title like that but because autistic kids are so sick she’s concentrating on helping getting them well. She’s a bit controversial because of her extensive supplement regime but her research is the basis for all the other protocols.

    Also:
    Dr. Stephen Smith MD of NW Integrative Medicine (see his website for a video on MTHFR and Glutathione and a link to his two mind maps at mindmeister.com on MTHFR symptoms and treatment) (His video says at 3:09 that B12 is usually high in people with MTHFR “because they just can’t convert it”)

    Dr. Neil Rawlins MD: watch his 4 part you tube video and see his “simplified protocol” (Methyl-life.com’s “Resources” has his links among others)

    Dr. Ben Lynch (watch his you tube presentation and read his website Mthfr.net … he sells “Seeking Health” supplements (see: “MTHFR C677T Mutation: Basic Protocol”)

    Dr. Rich VanKonynenburg Ph.d (chronic fatigue researcher… sadly he recently passed away. His simplified protocol is at the “Phoenix Rising” Forum, Dr. Smith has a link to his videos)

    Phoenix Rising.me’s forum under “Detox: Methylation; B12; Glutathione; Chelation” has Dr. Rich VanK’s “simplified methylation protocol” and a poster named “Freddd” has developed a B-12 treatment plan. There’s a lot of info on this site!

    Dr. James Roberts (cardiologist who uses Yasko’s testing has outlined possible treatments based on Yasko… see “Heartfixer nutrigenomics”

    April Ward-Hauge MS, NP, BCIM: Nutrigenomics & Integrative Medicine (see “Your Body Chemistry” for an easy to understand explanation of methylation.)

    Dana at danachronicallyliving’s blog developed a spreadsheet… see “Determining Your Yasko Methylation Results from 23andme Data”

    “Genetic Genie dot org” used Dana’s spreadsheet as the basis for their conversion programming.

    Google: High Homocysteine and MTHFR at PubMed

    I did the 23andMe and I ran my results through “Genetic Genie.” The CBS mutations were the tip of the iceburg. I found I have over a dozen mutations in the “methylation pathway” and a hemochromatosis gene!!! (BTW, anyone with elevated liver enzymes… one cause often missed is hemochromatosis… google iron disorders.org)

    I contacted Sterling Hill of MTHFR SUPPORT through her facebook and scheduled a consult to have her analyze my data. She found other genes which may be indicated in chronic illness and she taught me how to do more research on my 23andMe raw data using SNPedia and 1000 genes. Her fee was very reasonable and I HIGHLY recommend her!!!!!

    My 23andMe only took a couple of weeks to get results… it may take longer now because so many people already on there are having multiple family members tested since the price dropped from $299. See MTHFR SUPPORT for Sterling’s comparison of Yasko and 23andMe’s testing and the other genes relating to chronic illness to help you decide if you want to go with Yasko or 23andMe or do both.

    My best, SweetFeather

    December 17, 2012 at 2:32 pm #3219
    SweetFeather
    Participant

    Thanks for sharing Issie! Have you tried low carb grain free? My resting heart rates dropped an average of 20 points following a low carb grain free diet. That showed me that keeping insulin and leptin in control is critical for me to minimize my brain inflammation. That coupled with learning researchers want to rename alzheimer’s “type 3 diabetes” helps keep me motivated to keep carbs low. But with CBS too much protein can be a problem… because of sulfur!!! What to do???? What to do???? I love Maria Emmerich’s blog for her coconut flour and almond flour recipes. I’m looking for a provider who knows how to deal with CBS mutations because according to Dr. Yasko they must be addressed first. Please PM me if you have any suggestions. Thanks! My best, SweetFeather

    PS. Issie did you check for celiac markers? Sterling Hill of MTHFR SUPPORT found I have several celiac markers… I’ve been gluten free for three years but if I’d known this earlier it could have made a huge difference in my health. I had NEGATIVE tests for celiac so those aren’t always accurate and even a biopsy can miss it… I had a postive response to diet and now I have genes to check for in my kids.

    December 17, 2012 at 4:42 pm #3223
    Dr. Diana
    Keymaster

    jiiiMEnz, I’m hoping Dr. Diana will have a chance to chime in here! She has said that some with sulfa allergies tolerate it but you must discuss this with your physician and let them decide if you could do a doctor-supervised trial.

    A PubMed search:

    Evidently, “It’s a not so simple story”

    http://www.ncbi.nlm.nih.gov/pubmed/21190500
    High Alt Med Biol. 2010 Winter;11(4):319-23. doi: 10.1089/ham.2010.1051.
    “Acetazolamide and sulfonamide allergy: a not so simple story.”
    “We also examine the different clinical presentations of allergy and adverse reactions, from simple cutaneous reactions with no sequelae through Stevens-Johnson syndrome and anaphylaxis, with risk for significant morbidity and mortality. We offer a systematic approach to determine whether acetazolamide is a safe option for those with a history of allergy to sulfonamides.”

    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1783707/
    Can Fam Physician. 2006 November 10; 52(11): 1434–1438.
    PMCID: PMC1783707
    “Approach to managing patients with sulfa allergy.”

    Great find, Sweetfeather!!! On Prettyill’s Facebook, we had a pretty LONG discussion about MTHFR. You may have seen my video — my family is not affected with any MTHFR mutations. I believe it is but one cause of blood stagnation and toxin build-up which can cause the start of some of our issues. Please remember that many people do NOT have issues with this defect, yet still suffer with POTS/hypermobility. So I think we need to cast our net a bit wider. If you are negative for MTHFR defects, PLEASE check for other causes of “blood thickening”, OK? Thanks for the great info! 😉 Diana

    December 17, 2012 at 5:32 pm #3224
    SweetFeather
    Participant

    Thanks, Dr. Diana! I missed the facebook discussion so I’ll check that out. I did see your video. I’m so glad you and your kids don’t have any methylation pathway mutations… I had twelve and two are homozygous! I know it is NOT the end all be all…. just part of the puzzle for me. I know the answer isn’t down any one rabbit trail and having spoken to you on the phone… I know you are going to have more answers for us soon. Blessings to you and yours this holiday season! Big Hugs! SweetFeather

    December 18, 2012 at 12:00 am #3227
    Dr. Diana
    Keymaster

    TWELVE!!! I’ll bet it’s busy around your household!!! OMG… 😉

    December 19, 2012 at 8:44 pm #3230
    Dr. Diana
    Keymaster

    Hi Issie and all, Just a thought… Most of us need to watch our food intake, go on special diets, etc. That’s hard. BUT WHAT ABOUT OUR KIDS? Yikes. Trying to explain the importance of dietary restrictions to teens is TOUGH. And they are at that “I’m invincible” age at our house. Any body else deal with this? Pills and diets at a tender young age. It’s soooo hard… 🙂 Diana

    December 20, 2012 at 9:10 pm #3232
    Dr. Diana
    Keymaster

    Great advice and thoughts, Issie! It seems I’ve always “eaten well” and I wonder if it is because, subconsciously, my body figured out that it did better… When the kids don’t notice the difference until the next day, though, it’s TOUGH!! I have noticed that my son likes air-popped popcorn, basically every day. I used to TRAVEL with my popper!! Certainly, it is a food that gives us NO problems. I suppose he is figuring it out… Thanks, Hon 🙂

    February 5, 2013 at 9:13 am #3393
    tonkadu
    Participant

    I have two CBS mutations. When I looked the CBS genes up it was noted they are being investigated in…. Ehlers-Danlos!
    CBS gene mutations are involved in methylation.

    What is “The Methylation Pathway”?????:
    http://www.autismnti.com/yourbodyschemistry.html

    http://snpedia.com/index.php/Yasko_Methylation
    “CBS Gene
    rs234706 – CBS C699T (Risk Allele: A) “Being investigated in Ehlers-Danlos syndrome”
    rs1801181 – CBS A360A (Risk Allele: T, 23andMe: A) “Being investigated in Ehlers-Danlos syndrome”
    rs2298758 – CBS I278T (Risk Allele: G) “Being investigated in Ehlers-Danlos syndrome”

    “CBS Gene: Limits homocystine into downstream path. People with CBS mutations will need to be careful with sulfur containing supplements. Increased risk for ammonia detoxification issues. Puts a burden on SUOX.”
    http://snpedia.com/index.php/Rs234706
    http://snpedia.com/index.php/Rs1801181
    http://snpedia.com/index.php/Rs2298758

    This is a Gene test for Marfan/TAAD which is listed under the heading “Ehlers-Danlos” and it includes CBS.
    http://www.genedx.com/test-catalog/disorders/ehlers-danlos-syndrome/marfan-syndrometaad-sequencing-panel/
    Genes on this test: ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2

    Read more about CBS mutations:
    http://www.heartfixer.com/AMRI-Nutrigenomics.htm

    Anyone else have CBS mutations?

    Dr. Diana, do you think the sulfur load could be similar to a barrel effect like with histamine? Maybe some patients who haven’t done well on Diamox have CBS mutations and are already over-burdened with sulfur. I wonder if they limited other sulfur sources and got their methylation working better if they might be able to tolerate the Diamox? Hmmmm…. I haven’t tried it yet because I’m so allergic to… sulfa antibiotics but maybe a trial under my allergist’s supervision will be in my future after all. Thoughts?

    Hi,
    Thank you very much for posting this SweetFeather.

    Using 23andme my wife found out she is homozygous positive for the C699T CBS mutation and the A1298C MTHFR mutation.

    It’s very interesting to me to see that CBS is being investigated for its role in EDS. I wish there was more of a description re who/what/where is being investigated, but I guess it will be published eventually if any of the investigations are fruitful.

    I just want to clarify something I saw. I think there are two different ways that CBS mutations can affect the methylation cycle are being mentioned in your links though.

    The link relating to the Marfan Syndrome genetic test I believe is (partly) testing for a mutation in the CBS gene that involves downregulation of CBS and can cause elevated levels of homocysteine and is seen to be responsible for a condition called Homocystinuria that has overlap w/ Marfan (see here, http://www.ncbi.nlm.nih.gov/books/NBK1335/, and here, http://www.ncbi.nlm.nih.gov/books/NBK1524/ – I arrived at these links from the Marfan testing link you posted). I believe those studies refer to the 833T>C and 919G>A mutations of the CBS gene.

    The mutations referred to by Dr. Amy Yasko are Y233Y (C699T) and A360A. Yasko says that these mutations involve an upregulation of the CBS gene and that “It’s not surprising that in those with the CBS mutation it’s common to see low levels of homocysteine, cysteine, or cystathionine, due to the rapid conversion to taurine.”

    It seems like if these mutations are part of the problem and need addressing, then the directionality of regulation is important.

    We’ve only just started on looking into treatment for this, and are planning to read through all of Yasko’s book.

    February 5, 2013 at 12:58 pm #3396
    Dr. Diana
    Keymaster

    Hi everyone, there is SO MUCH great info here! I do believe that our illnesses are shaped by our genes, certainly, and recommend that everyone get a 23andme (now at $99). As we gather all of this info together, obviously it will be critical to know where your weaknesses are. I think it is entirely possible that Diamox may not agree with folks who can’t handle the overload of sulphur. Concerning sulphur allergies, I DO hear that most folks do fine with Diamox, even with a sulphur allergy, but obviously, you and your doctors will want to be careful with that, certainly. Some doctors (usually allergists) can put you through a desensitization program so that you can tolerate most anything. I think that may be important, because we don’t really have a non-sulphur alternative to lower our intracranial pressure, dad gum it. In our family, we have low homocysteine, and our 23andme results are sitting here for me to check for CBS mutations. They’re still patiently waiting! Our family is negative for MTHFR defects, so methyllation went to the back burner. I’ll revisit it, certainly, just as soon as I can get to it! I’m happy to share my results, as soon as I figure them out, BTW! 😉 Interesting that they put TGFBR1 and TGFBR2 in with the mix for CBS mutation tests… That is the test for Loeys-Dietz syndrome (we tested negative for this). If they are checking other collagen disorders (not just EDS), I wonder if these other genes include ones for Sticklers, etc? As soon as I wrap up these two patents I’m working on, this will be next on my list! Thank you all for such wonderful info!! Big hug…

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