Slightly OT but relevant to spinal lesions

A forum to discuss Chronic Cerebrospinal Venous Insufficiency and its relationship to Multiple Sclerosis.

Slightly OT but relevant to spinal lesions

Postby CureIous » Tue Dec 15, 2009 10:06 pm

And yes, it's just another snippet to toss in the massive pile we have amassed here, which seriously, needs it's own encyclopedia section lol. (good reading though!)


This might fit into the "MS is different diseases" theory.
For spinal cord lesion sufferers, positive for the gene, might be genetic. For others, it's a structural issue tied to an injury, THEN the immunity fires up after so much vascular related insult.
Other's might be a combination of the two.

I know it doesn't prove anything either way, but still interesting if we are to someday categorize CCSVI as a separate disease.
In this case, I find it very interesting, the relationship between lesion load, and level of disability. Or at least that's the claim they make.

Mark.

SNPwatch: Genetic Variant Associated with Multiple Sclerosis Risk May Also Be Linked to Number of Spinal Cord Lesions in People with MS
Published by Shwu at 10:00 am under SNPwatch


Multiple sclerosis (MS) afflicts the central nervous system, causing unpredictable and varying symptoms that differ from person to person. About one in 700 people in the United States is affected by the disease. Although there is currently no cure for MS, there are treatments that can slow the progression of the disease and enhance the quality of life for people who have this condition.

Researchers have identified several genetic variants in the HLA region of the genome –an area containing many genes involved in immune system function – that seem to affect MS symptoms, disease severity, and response to treatment. One of these variants is in the HLA-DRB1 gene. Known as HLA-DRB1*1501, this variant is associated with increased risk for MS, though exactly how it is involved in development of the disease is unclear.

In a report published online today in the journal Archives of Neurology, a team of researchers led by Drs. Madeleine Sombekke and Chris Polman of Vrije University in Amsterdam uncovered a clue which may elucidate the connection between the HLA-DRB1*1501 variant and multiple sclerosis. They analyzed *1501 and other genetic variants in 150 Dutch individuals with multiple sclerosis to see if any of the SNPs were associated with variation in brain and spinal cord lesions.

One SNP in particular, rs3135388 (used as a proxy for HLA-DRB1*1501), was associated with spinal cord lesions. People carrying at least one copy of the A version of rs3135388 had significantly more spinal lesions and had more segments of the spinal cord affected than people with two copies of the G version.

(23andMe Complete Edition customers can check their data for rs3135388 using the Browse Raw Data feature. This SNP is also part of the Multiple Sclerosis Research Report available to Health and Complete Edition customers.)

MS is believed to be an autoimmune disorder – wherein the immune system attacks the body’s own cells rather than foreign invaders – and so it makes sense that genetic variants in immune system genes would influence the course of the disease and its clinical features. HLA genes, in particular, encode proteins that contribute to self vs. non-self immune recognition. Previous studies have proposed a link between HLA-DRB1*1501 and disease severity. Since lesions on the spinal cord are often used to diagnose MS and the degree of disability, Sombekke’s team suggests that the association of HLA-DRB1*1501 with spinal cord lesions might help explain its relationship with severity of the disease.

SNPwatch gives you the latest news about research linking various traits and conditions to individual genetic variations. These studies are exciting because they offer a glimpse into how genetics may affect our bodies and health; but in most cases, more work is needed before this research can provide information of value to individuals. For that reason it is important to remember that like all information we provide, the studies we describe in SNPwatch are for research and educational purposes only. SNPwatch is not intended to be a substitute for professional medical advice; you should always seek the advice of your physician or other appropriate healthcare professional with any questions you may have regarding diagnosis, cure, treatment or prevention of any disease or other medical condition.
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RRMS Dx'd 2007, first episode 2004. Bilateral stent placement, 3 on left, 1 stent on right, at Stanford August 2009. Watch my operation video: http://www.youtube.com/watch?v=cwc6QlLVtko, Virtually symptom free since, no relap
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Postby Johnson » Tue Dec 15, 2009 10:56 pm

I'm still not convinced of lesion count/location = level of morbidity. I've had lesions come and go, and at last count, I had 20 - all over the place
The T2 FLAIR sequence demonstrates more than 20 high signal white
matter lesions extending from the corpus callosum in a perivenular c-.-
distribution. There are multiple juxtacortical lesions in the centrum
semiovale. additional lesions are present in periventricular regions
bilaterally. A few high signal lesions are present in the right pons.
There are other lesions in the middle cerebellar peduncle,the
posterior right medulla, the left cortical spinal tract and a few
scattered posterior cerebellar lesions.
, but I am relatively well compared to people who just have a couple. I've heard similar accounts here, with some up to a count of 40 lesions.

I do think there are different mechanisms to a spectrum of symptoms that are classified as MS. As we all know (?) MS is a spectrum dis-ease with as many unique presentations as the individuals presenting - albeit with marked similarities. I have a feeling that there will still be (and still is) MS even after liberation.
My name is not really Johnson. MSed up since 1993
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Postby CureIous » Thu Dec 17, 2009 11:44 pm

Johnson wrote:I'm still not convinced of lesion count/location = level of morbidity. I've had lesions come and go, and at last count, I had 20 - all over the place
The T2 FLAIR sequence demonstrates more than 20 high signal white
matter lesions extending from the corpus callosum in a perivenular c-.-
distribution. There are multiple juxtacortical lesions in the centrum
semiovale. additional lesions are present in periventricular regions
bilaterally. A few high signal lesions are present in the right pons.
There are other lesions in the middle cerebellar peduncle,the
posterior right medulla, the left cortical spinal tract and a few
scattered posterior cerebellar lesions.
, but I am relatively well compared to people who just have a couple. I've heard similar accounts here, with some up to a count of 40 lesions.

I do think there are different mechanisms to a spectrum of symptoms that are classified as MS. As we all know (?) MS is a spectrum dis-ease with as many unique presentations as the individuals presenting - albeit with marked similarities. I have a feeling that there will still be (and still is) MS even after liberation.


All good points of course. It was interesting that they crept ever so gingerly out on the tenuous branch that is lesion load=disability, albeit as a hint towards a specific gene etc. It's chew worthy, definitely wouldn't swallow it quite yet. Be interesting to see where gene research goes in the future with this. That's why I think there will be more "purely MS" classifications, strictly immune and genetic in nature, and a host of CCSVI types too. Check back with me in a year lol. :) Mark.
RRMS Dx'd 2007, first episode 2004. Bilateral stent placement, 3 on left, 1 stent on right, at Stanford August 2009. Watch my operation video: http://www.youtube.com/watch?v=cwc6QlLVtko, Virtually symptom free since, no relap
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Postby Johnson » Fri Dec 18, 2009 2:43 am

CureIous wrote:Check back with me in a year lol. :) Mark.


That, will be interesting,

What's the $64,000 Question worth - inflation adjusted?
My name is not really Johnson. MSed up since 1993
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