three genes linked to CF ( questions galore)

Discussion in 'Fibromyalgia Main Forum' started by sues1, Apr 23, 2006.

  1. sues1

    sues1 New Member

    Like everyone I am looking and reading and getting confused on much, this one "got to" me the most. It sounds, and probably meant to be, it is a teaching page.......that the stressors are all mental ones. Up until this one the remarks did not bother me that much. But even if what? I want to get better and will not.. if I deny the possibility. Let's see what they come up with. No disgrace if it is so.

    My FM started after a fall....months later I got the "famous flu" and never got over it and was told that I had CFIDS. So I always thought that it was all virus type of a thing. Everyone I know that has it had an accident or illness first.That is a stressor for sure.

    I had read that it was in our heads so......
    I even went for a psychiatrist for awhile and the Dr. could not find anything wrong with me to create stress, or I how I dealt with such.

    BUT maybe I thought I was cool in my attitudes and the way I dealt with things. I've had lots happen in my life time. Everyone has to some degree or another. Maybe this is the trigger though, after reading a part of below. We really need to be open minded (not enough that our brains fall out..LOL), but honest. Yes we are sick and it can not be cured necessarily with just going for pyc. help. See what I mean.......I will put ****** before and after the paragraph I am refering does make sense. Stress+ trigger to this real illness. It affects our body totality. SUSAN

    Chronic Fatigue Syndrome Linked to Three Genes

    By Michael Smith, MedPage Today Staff Writer
    Reviewed by Robert Jasmer, MD; Assistant Professor of Medicine, University of California, San Francisco
    April 20, 2006
    Source News Article: Forbes, LA Times, MSNBC, Washington Post

    MedPage Today Action Points

    Explain to interested patients that this research effort has begun to clarify the biological basis of chromic fatigue syndrome.

    Note that the studies link the syndrome with variations in genes that code for parts of the body's stress response mechanism.

    Caution that the studies are still preliminary and will need to be replicated.

    ATLANTA, April 20 - Chronic fatigue syndrome (CFS) has been linked to five mutations in three genes that are related to the body's ability to handle stress.

    "For the first time ever, we have documented that people with CFS have (variations in) certain genes that are related to those parts of brain activity that mediate the stress response," said William Reeves, M.D., director of CFS research at the CDC here.

    Also, people with the syndrome have differences in genetic activity levels that affect the way they respond to stress accumulated over a lifetime, Dr. Reeves said in a media telebriefing to announce 14 research papers arising from a CDC study in Wichita, Kan.
    *************(note: accumlated over a lifetime! Susan)***

    The findings could lead to better diagnostic tools for the syndrome, which is often regarded as ill-defined, and to better treatments, including both cognitive and behavioral therapies and new drugs, Dr. Reeves said.

    The papers, published in the April issue of the journal Pharmacgenomics, were described as "groundbreaking" by Dr. Reeves, but were not made available to reporters by the CDC.

    The research "is really the first credible evidence of the biological basis for chronic fatigue syndrome," said CDC director Julie Gerberding. "It reflects a remarkable confluence of a number of scientific advances," she added.

    The flurry of research papers arose from a longitudinal population-based study in Wichita, from 1997 to 2000. That study found 70 people classified as having CFS, and in 2002 and 2003, they were invited to take part in exhaustive two-day clinical and genetic evaluations.

    The researchers also included 55 matched controls for the 58 CFS patients who agreed to take part, as well as 59 people with fatigue symptoms who did not meet the full CFS criteria (dubbed ISF). Also, they included 55 people with either ISF or CFS and concurrent melancholic depression.

    The data gathered from the 227 participants, at a cost of about $2 million, included a full clinical evaluation, electrophysiologic measurements of sleep physiology, cognitive function, autonomic nervous system function, and detailed blood work that included DNA and gene activity analysis, Dr. Reeves said.

    The next step was to share the data with four teams of researchers, which each took a different approach to the analysis, said molecular epidemiologist Suzanne Vernon, Ph.D., of the CDC's CFS Research Laboratory.

    For the genetic analysis, she said, "we took a pathway-specific approach. We targeted about 50 genes and 500 polymorphisms in genes that are active in the hypothalamus-pituitary-adrenal (HPA) axis."

    It turned out that all four groups zeroed in on five single nucleotide polymorphisms (SNPs) in three genes - those coding for the glucocorticoid receptor, for serotonin, and for tryptophan hydroxylase - which, she said, "are very important in the function of the HPA, which is the body's stress response system."

    The effect of the variations, Dr. Reeves said, appears to be that people with them are less able to cope with stress.

    One of the research groups, he said, identified three distinct fatigued groups - those with extreme fatigue, those with symptoms such as heart-rate variability and cortisol disturbances, and a group that was primarily menopausal women.

    "The genes that Dr. Vernon mentioned distinguished the three fatigue groups from those that were not fatigued and two of those genes distinguished between the fatigue groups," Dr. Reeves said.

    A study such as the one in Wichita produces enormous amounts of data, which must be reconciled if useful conclusions are to be drawn, said Jan Witkowski, Ph.D., director of the Banbury Center at the Cold Spring Harbor (N.Y.) Laboratory. The 14 research papers "are a heroic attempt to do so," he said in an accompanying editorial.

    But while the amounts of data are large, Dr. Witkowski added, other disciplines have overcome greater challenges and "there is every reason to believe that continuing technical and intellectual advances" will help clarify the basis of diseases such as CFS.

    Dr. Reeves said the Wichita effort is being followed by a larger study in Georgia, which will attempt to replicate and expand on the results.

    Primary source: Pharmacogenomics
    Source reference:
    Suzanne D. Vernon and William C. Reeves. "The challenge of integrating disparate high-content data: epidemiological, clinical and laboratory data collected during an in-hospital study of chronic fatigue syndrome." Pharmacogenomics 2006;7:354-354.

    Additional source: Pharmacogenomics
    Source reference:
    J.A. Witkowski. "The post-genomic era and complex disease." Pharmacogenomics 2006;7:341-343.

    FROM: [This Message was Edited on 04/23/2006]
  2. victoria

    victoria New Member

    but my fear would be that it would be used to just brush us off more....

    However, someone else wrote this comment about these studies and announcement, this could very well be very true and harbinger of what is to come:
    Lyrica was created to act on a specific area of the brain. Dr. Josette Johnson says since it works, there will be a number of other drugs brought to market to work on the same area of the brain. In fact, her clinic is running a trial on one new drug.

    Now that the NIH/FDA have Lyrica to sell (AND more on the way), -suddenly CFS has become “REAL.”

    The article is sympathetic prologue to CFS now being a legitimate illness!!! It has nothing to do with recognizing new symptoms etc, or advancing knowledge about CFS.

    Listen very carefully. You can hear all the big drug companies singing “We’re IN THE MONEY…!”

    This may be wrong, I haven't looked at Lyrica, but seems to make sense.

    Yes i know I'm being cynical, but time and experience have taught me to be to a certain degree - wish it hadn't.

    all the best,

  3. sues1

    sues1 New Member

    Cynical....maybe.....but WHEW....also quite bright to think of this. I did not read on that drug you mentioned. I have to agree with you that we must be cautious, and for the reasons you mentioned.

    But we are sick and need treated for all the various problems physically for sure. So we will not be brushed off, not unless you have a real jerk of a dr.

    Outside of the genes that they found, they've already always said everything else, haven't they?

    I used to love to read Robin Cook's books.....medical mysteries. I have a problem reading a lot now and never did read the last book I bought that he wrote. I've had it a long time.

    But this sounds like a plot in one of his books,really does. So since I have read so much along this makes me think again also.Let's hope it "ain't'so.....Good reply Victoria.......Susan
    [This Message was Edited on 04/23/2006]
  4. sues1

    sues1 New Member

    I am almost embarrased by this question......but I know nothing about gene studies and such......

    Could they be looking at it backwards.....for some reason or another.......could we mutate genes ourself from dealing with all of this......and was not mutated prior?

    My brother was told by a specialist that he got RA from our grandfather having rheumatic fever and a gene mutated and it was passed on, my father got RA and then my brother did.

    It is hard for me to post this, but where else can I ask this question......stupid or not?

  5. sues1

    sues1 New Member

    I just looked up Genes Mutation....first I looked at said:

    A gene mutation is a change in one or more of the bases that make up a gene. As genes are passed on when an organism reproduces, mutations are inherited.

    There are a number of different sorts of mutation.

    I also saw: Because the genetic code is the same in all organisms, the gene for human insulin, for example, should work just as well if it is put in a bacterial cell. We should be able to produce a bacterium that will produce human insulin

    Mmmmm. Wonder how expensive that would be? Could do that with lots of various genes......other reasons.

    tired will try and remember to study this more.....Susan
    [This Message was Edited on 04/24/2006]
  6. TXFMmom

    TXFMmom New Member

    What this study says is that they have discovered that three genes, which happen to be genes involved in how the body handles stressers, are DEFECTIVE OR DIFFER. IT DOES NOT MEAN YOU ARE MENTAL CASES.

    What it means is that we all have various things happen to us which activate this area of the brain. With these defective genes, one would not respond in the normal manner to the fight/flight response. The defect would DISABLE A NORMAL RESPONSE OR IMPAIR IT.

    That means that our body may interpret THINGS AS FIGHT/FLIGHT STIMULI, when it is not. That means that our pituitary/hypothesial/adrenal system would be supercharged all the time, and our bodies may not get the rest and down time it needs.

    Eventually, that would exhaust or overwhelm our immune systems, folks.

    The harm could build up over time, until some huge stresser, such as an illness, sickness, injury, mental shock or something just sort of BREAKS THE CAMEL'S BACK, and throws our equilibrium off.

    That would account for the high levels of substance P in the spinal fluid, the taunt, twisted muscles, the inability of the brain to rest and sleep properly, the immune difficulties, the hypersensitivities, etc.



    I understand that a larger test is underway, on a much larger group, and if the same thing is found in that test, the ELUSIVE TEST TO FIND A FINAL DIAGNOSIS MAY BE THERE.


    Personally, I think that CF and FM are just different findings of the same disorder. Not all individuals with a lot of disorders experience the same symptoms all the time.


    This could be the panacea, and you guys misunderstand what they mean by STRESS OR STRESSORS.

    Stress or stressers, as being used in this, would mean that our body, due to these defects, cannot or does not correctly interpret and respond to stressers, and as the years go on, it could worsen, till the proverbial camel's back is broken, and WALA MAJOR CF OR FM.

    Personally, I am relieved that this has been discovered.

    It is much like HIV, they called it AIDS, or autoimmune disorder syndrome because they didn't know what caused it.

  7. Strawberry94

    Strawberry94 New Member

    Hi I am new here,

    I sort of just assumed that when they talk about the body not responding correctly to stress because of the way the brain works that they were talking about the Pituitary, Adrenal, thyroid axis and that eventually that caused a cascade of imbalances that drifted down to the molecular energy system.

    I guess more details will come out in time.

    A question I have is why and where are these "mutations" taking place and why does CFS seem to come in clusters at times? Why all the new cases after the 1980s?
  8. sues1

    sues1 New Member

    I can not really say I am qualified to answer them. But I read that mutated genes are inherited. They are in us when we are born.

    Stress can trigger the activation of these genes in our bodies. Stress can be physical or mental. But I feel that physical ailments creates mental stress, even if we deal with it well. It still takes wear and tear on us.

    I am so far...reading (if I understand it correctly) that the 3 genes involved has a weakness for stress, and we then become ill. AND, it is stress that is amassed over our lifetime up to when we become ill. That we do not deal with stress well, a that is a physical reason, not a mental one.

    So now I think of small children that get this, from fine loving families from all appearances. What stress could they occured in such a short while on earth? Maybe their genes are weaker yet than ours? We do not have large numbers of really young ones, but more teenagers, but who can say that they had not been suffering much earlier in their lives? I still believe that we got a virus or combination that invaded and created this problem. Maybe it still holds true, combined with what they are saying?

    I have read over and over through my own life that RA (Rheumtoid Arthitis) is activated the same, from stress. Other things also. RA runs in my paternal line.

    I recently was researching Tourette's disease for someone that is having her son tested for it. I learned that sometimes there is Parkinson disease in past ancestors that somehow is involved in later generations as Tourette's. So much we do not understand.

    The mind is still a vast mystery, we have not began to unravel what it holds/does.

    We all dealt with stress during our years, some more than others. I always thought that I managed it well. I looked as such as "Challenges" and felt challenged to deal with such in a proper manner. But now I am reflecting and knowing that such did "do a number" on me. I have been told many times in my life that I deal with such so well.

    I hope this helps. Maybe it is a repeat in a way of what you have read.

    God Bless All of us...........Hugs.................Susan
  9. sues1

    sues1 New Member

    To answer you further.....why/How? Some type of illness in our direct bloodline before us had a illness that mutated these genes. It is hard to say how far back in the family line this occured.

    It is interested that you mentioned the clusters. Makes me think of the early reports on this, and large clusters of folks came down with this. Some were family members (but that makes sense with this genetic theory), but some were teachers with in a school and band members, etc. People not related.

    What bacteria or virus was present in the communities that reported these clusters? I just can not shake it from my mind that there is more to this. If it was something that they "caught" and the genes could not cope with this stress of whatever it was, why so many and why in certain areas, why so many? How many people was/are carrying the mutated genes?

    I think some in areas did not find answers to their illness, and maybe doctors called it other things. You will find many names for CFIDS. But I can not fathom people working with this and not missing work, or housewifes laying around the house and not doing things. Many must of been thought of in terrible ways.

    I have read that this has been around for a longgggggg time.
    But it seems to me that we had a jump in the amount who have it. Some do work and bless them. It seems more than just becoming aware of this.

    My mind keeps going in circles..............Blessings.......Susan

  10. ANNXYZ

    ANNXYZ New Member

    Do you understand how lyrica could be helpful
    to this disease ? I wonder if it just works on the pain receptor part , or if it might actually help the immune system become normal and be able to fight infections
    effectively . I do not understand the value of lyrica in this .

    Thank you for posting the clip about lyrica.

    I have often wondered if treating CFS patients with cortisol would really help with the disease , since our lab work shows we usually are quite deficient in it . Have you ever questioned this ? What do you think?
    [This Message was Edited on 04/25/2006]
  11. julieisfree05

    julieisfree05 New Member

    Your question about "why all the new cases after 94" was addressed in "Osler's Web" by Hillary Johnson.

    Dr. Paul Cheney says that this illness had probably been around pretty much forever, but in the early '90s a "new dynamic" came into play. It swept through the population, and those who were vulnerable (the genetic defect the CDC just found?) got sick - just like other infectious diseases.

    There was a lot of evidence of an unidentified (new?) retrovirus in many CFIDS patients, but the CDC never properly replicated the work of Dr. Elaine Defrietas. She found evidence of HTLV1 in the majority of CFIDS patients whose blood she tested (the general population has about a 1% infection rate), but then it started looking like something else. Retroviruses cause immune and neurological problems, so it wasn't a big stretch for the people who really understood the scope of this illness. Unfortunately, the CDC were not among those people.

    The CDC had her entire testing protocol and blood samples from the same patients, but they never followed it properly. Then they announced that they couldn't replicate her findings.

    WELL DUH!!! If you don't use the same protocol, you won't find the same thing!

    Just another example of how the CDC has misled the public about their "expertise", and being "at the forefront of CFS research"! LOL!

    julie (is free!)

    If I promise to miss you
    will you go away? - Various
  12. victoria

    victoria New Member

    I just have a healthy skepticism of big pharma and other large companies... that was actually a quote from someone else.

    Just some musing on my part, however, trying to be logical:
    many people are asymptomatic, according to research, yet have Lyme Bb -- it is not until they encounter either a physical and/or mental stress that it often becomes symptomatic - true of other stealth pathogens too from what I've read.

    So if one has these gene mutations and a stealth pathogen, and is then put under mental and/or physical stress, perhaps that is when one becomes ill with the mysterious CF/FM, symptoms depending on (other) inherited genetic weaknesses - RA in one person, lupus in another, MS in another, sarcoidosis in yet another....

    (and yes, mental stress is equally debilitating to the body as physical stress as it comes out in physical ways - rapid heartbeat, increased adrenalin etc... causing a whole cascade of other problems when the mental or physical stress is prolonged.)

    all the best,

    [This Message was Edited on 05/01/2006]
  13. elliespad

    elliespad Member

    So many wonder where these mutated genes come from. A MAJOR contributor is PESTICIDE EXPOSURE. They cause MUTATIONS. In my BIO, I tell about my exposure as a child. As a result of a lawsuit brought by the NYS Attorney General, I have the names of 7 chemicals I was exposed to. These are COMMON pesticides used in the home and agriculture. Those that I was exposed to include Aldrin, Chlordane, 2,4,5-T, Dursban, Heptachlor, Malathione, Rat Poisons.

    Anyone can research any chemical by searching MSDS (Material Safety and Data Sheets)

    Here is just one (lengthy) page written by a Doctor about Pesticides, specifically the Organophosphate Class of Pesticides.
  14. ulala

    ulala New Member

    good info here to keep people thinking!
  15. ANNXYZ

    ANNXYZ New Member

    I am baffled by the "facts " that soooo many with cfs/ fm are SUPPOSEDLY WHITE FEMALES , frequently 40- 60.

    I question if this is really true , and if the CFS / ME sufferers in other countries are also predominantly white females . There may be some clues to the disease in this issue .

    A couple of things that cross my mind relate to changes in our culture over the past twenty years . The first is that white ladies have probably been avoiding fatty diets according to the conventional medical wisdom that began in the seventies . With that being so , many of us gave up dairy products to prtoect our arteries .

    I question if our cells have become less healthy because we do not have the proper balance of fats .
    We are finding now ( Framingham study of 20 years )
    I also seriously question the lack of VIT D and the realtionship of it to the increase of depression, cancer , FM , arthritis , and immune disorders .

    THERE IS SIGNIFICANT DATA to compel one to question a link . Vit D plays a MAJOR ROLE IN IMMUNE FUNCTION.

    If you do a search on google on VIT D , you will find
    mind boggling statistics and studies by respectable scientists and institutions . I have to admit that I felt almost shocked when I came on this info, yet most of us are NOT being advised by docs on this issue .

    I am not a science person, but but I do wonder about the prevalence of this DD in the population of white ladies , and what factors could be considered .

    Another one that crosses my mind is the fact that the thymus gland shrinks after age forty , which might explain
    the immune system becoming vulnerable at mid- life .

    Maybe we can brainstorm and come up with some clues among the afflicted white ladies here .

    Any other food for thought ?
  16. Strawberry94

    Strawberry94 New Member

    I think the date of disgnosis probably says more than the average age. JMO

    I was always low energy and achy, but I definately got very sick starting in 1994, like nothing before. I was 26.

    The current information on the CDC webpage says that Black women and women with Native American genetics are thought to be more likely now to get it, that the idea that it was more a Caucasion (sp?) disorder has been debunked by deeper research. I have Native American genetics in my mother's family. I wonder how many Whites who have CFS also have NA genetics in their family trees here in the US.

    [This Message was Edited on 05/02/2006]
    [This Message was Edited on 05/02/2006]

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