Gene testing and LS

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I have been researching the defect I may have in my genes. It is complicated, but it would appear that the B vitamins and Folates are not being used properly within the body thus causing problems with one's health. One of these problems is with inflamatory conditions and auto immune conditions, Arthritis and Asthma are cited but I couldnt see any others identified.

I imagine that as gene testing is very new, gyneacologists and dermatologists havent  checked this aspect of medicine to relate conditons like LS to defects, in the gene. Should we be asking for this at the check up clinics we visit? We do need to raise awareness

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  • Posted

    Hi sue...Good question but don't hold your breath. Generally speaking as of yet a diagnosis and sent on your way with a tube of steroid treatment is about as good as it gets.

    Until LS is acknowledged as a more frequent disorder than is commonly accepted we won't get much attention.

    There is room for mega improvements on that score but at the end of the day it is about investing money into LS research.

    Unless pharmacutical businesses see profits, scientific research on a large enough scale aint going to happen.

    Are you referring to pernacious anemia?

    My sister developed a couple of autoimmune disorders during menopause one being hypothyroidism the other pernicious anemia.

    She doesn't produce the enzyme required to assimilate b12.

    She has injected b12 every 3 months.

    It doesn't matter how much b12 is eaten in the diet, without the neccessary enzyme it will not be assimilated........and what makes enzymes....yes those blasted hormones again!....We women do have to go through it with our complicated hormone system.

     

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    • Posted

      Hi Norma, the actual issue is the defect in the methylation cycle- this is REALLY complex and indicates that there is a defect at cell level (there are several forms of B12 and you need the Right One For You). No it isnt pernicious anaemia altho that could be a side effect. There is insufficient folate being utilised and this IS NOT the same as folic acid - which can mask the issues, if blood is tested. Most breads and multi vitamins have addtional folic acid as well. I am learning with a perpendicular curve at present but eating loads of green leaves which contain folates that can be  be used in the body. Check out the MTHFR - Genetics website- you will see there is a huge amount of research being done, world wide. But sadly it doesnt seem to occur to non academics that genetic testing might be really helpful in determining the actual cause of our  complaint. one cant change the genetics but one can change how the the genes operate - I think!

      You sister does sound as if she may have a hiccup in the methylation cycle. My sister doesnt have LS but has had a series of non related inflamatory issues and her on the ball gp suggested  gene tests and hey presto may questions have been answered!

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    • Posted

      and because both parents passed down this gene i am likely to have the defect too- My gp was intrigued but unaware of gene testing how to go about it but is willing to learn. I await his knowledge base improvement then I will go for testing - either on NHS or privately if necessary.in the mean time i am reading up everything i can find - and understand in the hope of seeing a causal link between this defect and LS- there is a clear link with Asthma autism bi polar addictions and many many more conditions- including MS MI Stroke dementia spina bifida (I have that too but is only obvious on Xray)

      So I really do need to find out what I can do to to lessen the chances of falling of the perch too soon

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    • Posted

      Wow, that's a whole list of stuff going on sue...

      I am sure we do carry dormant genes that only need the right cicumstances to trigger any given issue.

      I have a sister with LS and when I asked my doctor could LS be hereditory he said he didn't think so.

      I took that as a simple fact that he didn't know.

      Genetic engineering is an incredible science that is progressing all the time.

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    • Posted

      H sue, I had a quick look earlier at a web page about the the Methylation Cycle...

      As you say ...complicated.

      It's a difficult one when you are dealing the the depths of DNA.

      It seems that low production of Glutathione has a lot to answer for and one of it's role is to protect vit. b12 from reacting with toxins. 

      Bit of a catch 22 when essential vits. needed are b12..folic acid..and somethig called TMG. These vits. need to be present to enable the recycling of Homocycteine back to Sam molecule which transports the methyl group to where it needs to go.

      I'll stop there this cycling is putting me in a spin..

      In time problems occur in the mitochondria due to low glutathione.

       I can remember something about a woman who was seriously ill and among'st other things she ate a lot of green vegetables to improve the mitochondria cells.

      So you are doing the right thing in eating your greens.

      The involvement at cellular level is mind boggling.

      DNA in the chromesome chain is passed down from both parents but DNA in the mitochondria is passed down from the mother only. So if you have a defect gene in the mitochondria you know who to blame.

      I hope you have success with possible gene testing. 

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    • Posted

      Hello hanny, These autoimmune disorders have a way of sneaking up on us don't they!

      My sister didn't know she had problems until she went to give her blood donation.

      Turned out they found problems with her blood so of to hospital she went for tests and observation.

      The tests found heart murmer, very high blood pressure, pernicious anemia and hypothyroidism. All this happened around menopause.

      She's having a bit of a problem at the moment with thyroid and blood pressure medication.

      Hope LS isn't waiting to knock on the door for her as well.

      It's Dr. Goldstien isn't it who says close relatives of LS suffers have a 1 in 3 chance of developing it.

      I know I am getting older,cause I am discussing ailments more since turning 70 than I did my all life before.

      I think I need a treat, all this discipline to control LS is a b**** !

       

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    • Posted

      Indeed Norma, LS is a b****!  Already had other autoimmune diseases - thyroid among them.  One 'leaking' heartvalve, but that one didn't get any worse.  
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    • Posted

      Well I did have a treat hanny.

      I shared a bottle of wine with hubby and I enjoyed it.

      I don't think I am any the worse for it and we have to have a few indulgences occasionally or life would be too boring.

      Take care hanny you have quite a bit to contend with.

      I definately don't want any more autoimmune buddies coming to my party.

       

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    • Posted

      Apparently my sister, and thus I am homozygous- ie both parents

      When I told my GP I needed to methylate my folates - he said it sounded more as if I needed to feed the chrysanths! Then was i sure I didnt mean spirit!

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    • Posted

      i too had a blood test for something or other and found out i have hypothyroidism,had no symptoms at all,now looks like i`m celiac and may have lupus,all auto immune deseases! who said life began at 40? i`m 59 and it seems all down hill at the moment (lol)
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    • Posted

      Ha Ha...there's always a joker in the pack. When things look bleak and all else is failing....keep your sense of humour lol.
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    • Posted

      No fun getting older, is it susan!..We can only fight on and hope to score a few points. Cheer up susan, 60 is the new 40 so you don't have long to go.
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    • Posted

      Ha, ha Susan, I'm 65 and still have good fun in my life.  In spite of the whole autoimmune collection.  I'm doing this since my 30's already and forced myself to make good living possible in spite of.  But have to admit - LS almost toppled me over.  However, I'm back and made it liveable again.

      Keep your good sense of humor, in spite of, it's the only way to make a good life still possible.  

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    • Posted

      i sometimes think if we don`t have a laugh ,lie would be dull and boring,and we would cry instead!yaaaaaayy only 11 months and i`ll be 40 again.

       

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    • Posted

      i`m glad you didn`t let LS get the better of you and sorry you`ve had this awful desease for so long,lifes too short to be miserable,so we may as well laugh at ourselves before anybody else does,and keep life liveable xx

       

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    • Posted

      That's the spirit susan, Life throws us a few curved balls but we have to learn how to hit them for six. When you have a re-run of your 40's make it a good one....Cheers.
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    • Posted

      Hi there, Gotta tell ya, we can't change how genes operate.  Not yet anyway.  I do believe there will be gene therapy for Diabetes soon. 

      Genes code for protein synthesis. If the code, say ATAATTA is broken, literally broken off, to look like this ATTAAT, the genetic material needed to produced normal metabolic processes is missing.  It amazes me how complicate our system is.  Our cells in our body are at rest 80 percent of the time, there are some exceptions like our reproductive cells and circulating RBCs.  The other 20 percent of a cells life is spent gathering up those amnio acids and getting ready to under go mitosis. Messangers are sent out, mRNA, and transcription takes place, tRNA, those base pairs A-T and G-C line up making up our genes.  It's all amazing.

      DNA is a molecule. A chemical replicated over and over again in our bodies.  It is not a living thing but our cells are. If the code breaks, the cradle will fall and down comes the genetic mishaps for one and all.

       

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