Dr. Judy Mikovits IACFS/ME Newsletter Apr 2010 Q & A

bel canto

Senior Member
Reading the many, many scientific posts on this forum, I have the idea that, although this retrovirus may be transmitted very easily, it still may not happen very often. There has been a lot of discussion about it not being easy to find in blood, etc. and that it may "hide out" in tissue reservoirs. So perhaps even with a lot of kisses, for example, the virus is just not present in the saliva, etc. to be transmitted most of the time, thus the low rate in the general population.

If I'm making a leap, someone please correct me. I'm only throwing this out because no one seems to have explained how some of these seeming contradictory statements could fit together. This is definitely just speculation on my (non-scientific) part!


Senior Member
I've just wathed a show on itunes about Fragile-X a gentic mutation of the FMR1 gene that has been found at around 30% in ASD kids.

The woman from UCA/ MInd institue said that they are finding links between Fragile-X and Fibromyalgia.

The NUPIF2 or NUFIP2 protein is shown to be upregulated in CFSrs in Kerrs eighty gene study, the protein is tagged fragile-x mental retartadtion in the study.

dementure, parkinsons, MS and CFS DX's or perhaps misDxs, or perhaps coDx's, have also found to be common amongst Fragile-Xrs.

I have an appoinment in May to see a gentic counselor, hopefully I will be tested shortly after this appoinment. One of the questions I intend to ask is could the CGG repeats) that occur in the fragile X mental retardation (FMR1) gene on the X chromosome; be caused by XMRV.

ie how possible is it that XMRV can cause repeating CGG's at a gentic level that can be inherited by repeatedly inserting itself into the same area.

including this for refernce

FMR1 premutation in females diagnosed with multiple sclerosis

  1. L Zhang1,
  2. S Coffey2,
  3. L L Lua1,
  4. C M Greco3,
  5. J A Schafer4,
  1. J Brunberg5,
  2. M Borodyanskaya2,
  3. M A Agius1,
  4. M Apperson1,
  5. M Leehey6,
  1. N Tartaglia2,
  1. F Tassone2,
  2. P J Hagerman7,
  3. R J Hagerman2
+ Author Affiliations

  1. 1 Department of Neurology, University of California-Davis School of Medicine, Sacramento, California, USA
  2. 2 Department of Pediatrics and MIND Institute, University of California-Davis School of Medicine, Sacramento, California, USA
  3. 3 Department of Pathology, University of California-Davis School of Medicine, Sacramento, California, USA
  4. 4 Neurology Services, Mercy Medical Group, Sacramento, California, USA
  5. 5 Department of Radiology, University of California-Davis School of Medicine, Sacramento, California, USA
  6. 6 Department of Neurology, University of Colorado Health Sciences Center, Denver, Colorado, USA
  7. 7 Department of Biochemistry and Molecular Medicine, University of California-Davis School of Medicine, Davis, California, USA
  1. Dr L Zhang, Department of Neurology, University of California-Davis School of Medicine, 4860 Y Street, Suite 3700, Sacramento, CA 95817, USA; lin.zhang@ucdmc.ucdavis.edu
  • Received 25 August 2008
  • Revised 4 December 2008
  • Accepted 22 December 2008
Fragile X associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that affects individuals with premutation alleles of the fragile X mental retardation (FMR1) gene. The clinical features of FXTAS include intention tremor, ataxia, parkinsonism, peripheral neuropathy, autonomic dysfunction and cognitive impairment.1 Such symptoms are accompanied by characteristic MRI focal areas of increased T2 signal in the middle cerebellar peduncles (MCP).1
In this report, we describe two female patients with FXTAS who were initially diagnosed with multiple sclerosis (MS) and treated accordingly but who also met diagnostic criteria for FXTAS. Their clinical features and MRI appearance are compared with other female FXTAS cases previously reported without a diagnosis of MS. A recent report of a female who died of MS and who also had FXTAS inclusions suggests that these two disorders can occur together.2

Case reports

Patient No 1
Case 1 is a 48-year-old female premutation carrier with a history of MS which began at the age of 33 years. Initially, her handwriting quality declined, and she subsequently became ataxic. A combination of weakness, clumsiness and ataxia forced her to use a wheelchair beginning in her late thirties. During that same period, she was diagnosed with MS following a CSF study which showed elevated IgG (9.8 mg/dl; reference range 0.56.1 mg/dl) without oligoclonal bands or myelin basic protein. Her course was consistent with relapsingremitting MS with early secondary progression, and she was treated

Pasted from <http://jnnp.bmj.com/content/80/7/812.extract>

any one want to hazaard a guess at the possibilty that XMRV could cause the reapeting CGG the repeats are normal upto 60 i think, over sixty and below 200 repeats are premutation carriers ( ithink) over 200 repeats and you have fragile-X.

When we were young my older brother was often called a retard, he was and still is horrendously abusive towards me, and always had behavioural and learning diffaculties, he would get shy and awkward as well.

Me on the other hand, total genius, gobby and obnoxiously confident.

Also paternal grandmother died from MS, lots of CFS types, and not blood related MSrs,ealry heart failure in maternal grandmother, stomach and bowel cancer in maternal grandfather.

Paternal grandfather was very shaky, shrapnel wound was blamed for this.

I worked out how many peole would have to be informed if I am a fragile-x carrier, and if its from my father about 10 people, however if its from my mother, I am blood related to well over 100 living people, whom I have nothing to do with.

Nice tag to get stuck with though, Mentle retardation gene loverly init, CFS is much less insulting. :Retro wink:

i also just learnt thay gluten (celiacs i think) is common in chromasonal disorders such as Turner Syndrome and Downs Syndrome.

I was checked extensivley from 6 weeks old to 14yrs by the military meicos for Turners Syndrime and other chromosomal disorders.

My parents were told that I was to be put on Human growth hormone and that mentle retardation may set in in my teens, and that by the time i grow up infertilty issues would probably be overcome by modern medicine and that if i was under developed by then they wud probably be able to do boob jobs LOL. They were given heaps of advice on how to raise me.

intrestingly enough there is only one letter in my medical files referencing this and that was from 1970ish. i was born in 65, and the last test was done in germany in 1979/80.

Sorry for the ramble, I've been a little silenced by life and abilty recently. Now I'm raring to go, wheres the war, and who do I need to shoot?


Senior Member
Transmission of XMRV

Most of the time a retrovirus will be tightly bound to the DNA of the cell. It is only infective when it becomes unbound to replicate.

To detect XMRV the WPI introduces samples into tissue culture which XMRV likes so much it starts replicating. They can then get enough free XMRV to do PCR.

Therefore, they can get XMRV to grow from saliva, blood and so on but only by giving it a good growth medium. This is basically how they have been detecting bacteria for over a hundred years.

In the body there is not much free XMRV because it doesn't replicate very much so most of the time a person's body fluids will not be infective.

My husband of thirty seven years doesn't have ME. XMRV may have caused other problems and I will now be very vigilant about prostrate cancer but it is not easily transmissible.

HIV replicates freely - they monitor how well the treatments work by looking for free particles - so there are lots of free virus particles in body fluids to be passed on. XMRV is different.

What this means for us, I don't know. Simple precautions anyway, but sometimes there is a limit to what you can do.

TB for instance can be caught by being a passenger on an aeroplane with a sufferer, yet families can live together for years and only one person will be infected.



Senior Member
Columbus, OH
I've just wathed a show on itunes about Fragile-X a gentic mutation of the FMR1 gene that has been found at around 30% in ASD kids.
Hi Flybro. Actually, about 5 percent of ASD kids have the fragile X gene (not 30%). However, 30 percent of children with the fragile X gene, have autism. Why so many children with fragile X have ASD is a mystery. At my children's school for autism, we even have ASD children with down syndrome. I do not know if any of you are familiar with down syndrome but the children are unusually loveable and much more affectionate than typical children. One mother told me she was surprised when her down syndrome child just got nastier as he got older. He would hit his sister and every child around him and would try to injure himself. Fortunately, things have gotten better for the child and he is now able to communicate with some words. The NYT just published an article about a new drug for fragile X kids and it may help those with autism. I have not looked into that yet. Good luck with your genetics appt.


My son was seen at MIND. We had a great experience there, although the doctor who saw us has since retired. They are well-funded and will be all over XMRV if/when a study comes out (if they aren't already. Good luck with the appointment. Fragile X is their thing and families struggling with that get a lot of attention there. Nice building, too;-)


Senior Member
Great Plains, US
Dr. Mikovitz's Q&A for the CFS/ME Association

The thing I was most happy about in the Q&A was the information that studies about the relationship between HLA-DR haplotypes and XMRV infection are already well underway. I'm so GLAD and GRATEFUL that someone is studying this!!!!
I hope it will reveal some interesting and useful information.



Senior Member
Cheers for the corection Jill,

i was scared as a young child that i would end up as Downs Syndrome once i became a teenager. Naturally as a young kiddie when i was told about the Turner Syndrome the only word i remebered was syndrome, so when i first saw a down syndrome kid at school when i was about 7, i thought that was what i had. Hence my extreme happiness and confidence once it became clear in my late teens that that wasn't the syndrome they thought I had.

I have a straight line on my hand called the simian crease, 84% of downs syndrome have this, I think it generally about 4% of the population in USA and Europe, and 17% of the general population in asai have this line.

The simian crease is indicative but not conclusive of a number of chromosomal abnormalities, incuding Downs, Turners and Fragile-X.

TonyBlair has these lines on both hands, in palmistry its the sign of a lunatic or genius, I easily fit both of those categories.

Thanks for the info you put up about ASD, I've had a lot of benefits from it.


Senior Member
Why so many children with fragile X have ASD is a mystery.
Imo something to do with altered neuronal excitability due to dysfunctional membrane calcium trafficking. Something along the lines of this http://www3.interscience.wiley.com/journal/118675839/abstract
Evidence is reviewed that the consequences of group 1 metabotropic glutamate receptor (Gp1 mGluR) activation are exaggerated in the absence of the fragile X mental retardation protein, likely reflecting altered dendritic protein synthesis. Abnormal mGluR signaling could be responsible for remarkably diverse psychiatric and neurological symptoms in fragile X syndrome, including delayed cognitive development, seizures, anxiety, movement disorders and obesity.

Same for Down Syndrome (about 10-15% have ASD):

Increased expression of voltage-activated calcium channels in cultured hippocampal neurons from mouse trisomy 16, a model for Down syndrome


Near Cognac, France
"Given that a number of physicians who send you XMRV samples are also collecting HLA DR data, can we sort the positives and negatives by HLA DR haplotype, i.e., is there evidence of an increased relative risk for carriage of XMRV and presence of illness by HLA DR?

A: We established the original WPI research program to look at the underlying genetics from the exact same population from which we were looking for novel viruses and correlating immune profiles and gene expression patterns. Therefore our collaborators Mary Carrington and Michael Dean of the NCIs genomic diversity program and the geneticists who identified the HLA and KIR susceptibility and resistance loci in HIV/AIDS have all of these studies well underwaysome of these data were presented at last years IACFS meeting. At that time we did not know XMRV status of those patients. Those data are currently being analyzed."

Does anyone know anything about when this data will become available?


Senior Member
Maybe when the UK WPI split study is published in addition to the IACFS meeting data? Dr Mikovits did say that she would may be test for haplotypes in this group as well as XMRV. Maybe she will do it altogther on one paper on HLA DR?