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Cold Sore Linked to Mutation in Gene

Waverunner

Senior Member
Messages
1,079
One genetic mutation can be enough to make affected humans prone to viral infections. It would be super interesting to sequence and compare the genomes of PWCs.

http://www.sciencedaily.com/releases/2013/09/130916122011.htm

Sep. 16, 2013 — Why some people are troubled by cold sores while others are not has finally been explained by scientists.

Cold sores affect around one in five people but, until now, no one has been sure why some are more prone to the virus that causes them.
Researchers at the University of Edinburgh have found that people affected by cold sores have a mutation in a gene, which means their immune system is not able to prevent them from developing.
Cold sores are caused by a strain of the herpes simplex virus -- herpes simplex virus type 1 (HSV-1). Between 80 and 90 per cent of people are infected with the virus, but only about a quarter of them get frequent cold sores.
Scientists analysed thousands of genes to identify which ones expressed the proteins needed by the body's immune system to prevent the virus from becoming active and -- as a result -- cold sores from developing.
They then looked at blood samples from people with cold sores and found that one of the genes previously identified -- IL28b -- was mutated.
This genetic mutation means that the body is not able to mount an adequate immune response to the virus, which results in cold sores.
The gene identified is also linked to treatment responses for hepatitis C patients. If this gene is mutated, patients are less likely to respond as well to treatment. The link is further evidence that a single genetic mutation can be linked to different viruses.
The study, published in the journal Plos Pathogens, was funded by the Medical Research Council, the Biotechnology and Biological Sciences Research Council, the Wellcome Trust and the European Union.
Professor Juergen Haas, of the University of Edinburgh's Division of Pathway Medicine, said: "Most people carry the cold sore strain of the herpes simplex virus, but until now we never knew why only some of them develop cold sores.
"Knowing that susceptibility to the virus involved relates to people's genes reinforces the need to research, not only the evolution of viruses themselves, but also the susceptibility of hosts to infection."
 

vamah

Senior Member
Messages
593
Location
Washington , DC area
This is very interesting. I am prone to cold sores (or was, before I started taking antivirals). I wonder if the same or similar gene mutation is why my immune system seems unable to fight hhv-6.
 

SOC

Senior Member
Messages
7,849
This is very interesting. I am prone to cold sores (or was, before I started taking antivirals). I wonder if the same or similar gene mutation is why my immune system seems unable to fight hhv-6.

Ditto
 

Thomas

Senior Member
Messages
325
Location
Canada
Same. I had a good response to valtrex for hsv1. Perhaps valcyte might be a good option for me.
 

ukxmrv

Senior Member
Messages
4,413
Location
London
I'm not sure if it's the same as the one mentioned in this paper

""while HCV clearance in CCR5Δ32 carriers remained poor even in patients with the rs12979860 CC genotype.""

http://www.ncbi.nlm.nih.gov/pubmed/21703201

If so I've got the CC genotype for that RS number in my 23 and me results. (TT seems to be the bad one here?)
 

Sparrowhawk

Senior Member
Messages
514
Location
West Coast USA
I've had canker sores off and on my whole life, almost any time the inside of my mouth was damaged (bit my cheek or whatever) one would crop up and take about a week to go away. When I had my big collapse about 20 months ago I had them almost constantly.

So I was really stunned when I did the testing with Dr. Kogelnik and found I had no HSV1 involvement. He said HHV6 can cause them -- so perhaps some of the above supposition is correct, a weakness in a gene may be an issue for some who get HHV6 early in life.

Note I also had like 17 amalgam fillings from about age 12+ so my mouth already had issues...since I had the fillings removed I didn't have quite so many mouth sores. Until CFS/ME days, that is.
 

maryb

iherb code TAK122
Messages
3,602
Location
UK
Waverunner

The gene identified is also linked to treatment responses for hepatitis C patients. If this gene is mutated, patients are less likely to respond as well to treatment

This is really interesting - I was found to have this gene mutation in my 23and me results. I've also suffered with cold sores since I was 17 - my son gets them and my g/son - obviously one I've passed on!!!!
 

roxie60

Senior Member
Messages
1,791
Location
Central Illinois, USA
I am CT rs12979860 never had a cold sore. So I have a 21.2% clearance rate for HCV with this polymorphism, kinda low but could be worse I could be TT. :thumbdown:

I also got canker sores sometimes if I bit the inside of my mouth but mostly they showed and I finally started realizing they should up before I even realized I was ill. I also have had much dental work. How does one know if they had HHV6 at younger age? Would it show up on a test now?
 

Sushi

Moderation Resource Albuquerque
Messages
19,935
Location
Albuquerque
Just a personal comment though I don't know how it relates to this research:

I used to also get a canker sore anytime I bit or otherwise damaged the inside of my mouth. I also had frequent cold sores. These have completely stopped with Nexavir and GcMAF. I don't know my gene status, but I wouldn't be surprised to have that mutation with this history of cold sores and canker sores.

Sushi
 

Thomas

Senior Member
Messages
325
Location
Canada
I did 23 and me but how do you find the actual gene mutations people are mentioning? Is there a special program needed or is simply listed somewhere in my profile i am just not seeing?
 
Messages
15,786
I did 23 and me but how do you find the actual gene mutations people are mentioning? Is there a special program needed or is simply listed somewhere in my profile i am just not seeing?
You can download your raw data from https://www.23andme.com/you/download/ and run it through various programs, such as geneticgenie.com or a rare allele download at http://sourceforge.net/projects/analyzemygenes/ . Those will give you a list related to their function (such as methylation, detoxification, rare alleles, etc).

You can also look up specific genes or SNPs which you're interested in in your raw data.
 

vamah

Senior Member
Messages
593
Location
Washington , DC area
I am CT rs12979860 never had a cold sore.

I also got canker sores sometimes if I bit the inside of my mouth but mostly they showed and I finally started realizing they should up before I even realized I was ill. I also have had much dental work. How does one know if they had HHV6 at younger age? Would it show up on a test now?


Something like 99% of people contract hhv-6 in childhood as a minor illness. Most are never bothered by it again. A few of us "lucky" people just have immune systems that can't keep it in check.
 

roxie60

Senior Member
Messages
1,791
Location
Central Illinois, USA
Something like 99% of people contract hhv-6 in childhood as a minor illness. Most are never bothered by it again. A few of us "lucky" people just have immune systems that can't keep it in check.

Does that mean there is a test to confirm one currently has HHV6 or a prior infection like titer for EBV?
 

roxie60

Senior Member
Messages
1,791
Location
Central Illinois, USA
I wish researchers would document SNPs and not just gene name. Just having the gene name is not that helpful and I did not see any SNP references in the article. Anyone figured out what SNPs they are referring to?

One genetic mutation can be enough to make affected humans prone to viral infections. It would be super interesting to sequence and compare the genomes of PWCs.

http://www.sciencedaily.com/releases/2013/09/130916122011.htm

Sep. 16, 2013 — Why some people are troubled by cold sores while others are not has finally been explained by scientists.

Cold sores affect around one in five people but, until now, no one has been sure why some are more prone to the virus that causes them.
Researchers at the University of Edinburgh have found that people affected by cold sores have a mutation in a gene, which means their immune system is not able to prevent them from developing.
Cold sores are caused by a strain of the herpes simplex virus -- herpes simplex virus type 1 (HSV-1). Between 80 and 90 per cent of people are infected with the virus, but only about a quarter of them get frequent cold sores.
Scientists analysed thousands of genes to identify which ones expressed the proteins needed by the body's immune system to prevent the virus from becoming active and -- as a result -- cold sores from developing.
They then looked at blood samples from people with cold sores and found that one of the genes previously identified -- IL28b -- was mutated.
This genetic mutation means that the body is not able to mount an adequate immune response to the virus, which results in cold sores.
The gene identified is also linked to treatment responses for hepatitis C patients. If this gene is mutated, patients are less likely to respond as well to treatment. The link is further evidence that a single genetic mutation can be linked to different viruses.
The study, published in the journal Plos Pathogens, was funded by the Medical Research Council, the Biotechnology and Biological Sciences Research Council, the Wellcome Trust and the European Union.
Professor Juergen Haas, of the University of Edinburgh's Division of Pathway Medicine, said: "Most people carry the cold sore strain of the herpes simplex virus, but until now we never knew why only some of them develop cold sores.
"Knowing that susceptibility to the virus involved relates to people's genes reinforces the need to research, not only the evolution of viruses themselves, but also the susceptibility of hosts to infection."
 

roxie60

Senior Member
Messages
1,791
Location
Central Illinois, USA
I'm not sure if it's the same as the one mentioned in this paper

""while HCV clearance in CCR5Δ32 carriers remained poor even in patients with the rs12979860 CC genotype.""

http://www.ncbi.nlm.nih.gov/pubmed/21703201

If so I've got the CC genotype for that RS number in my 23 and me results. (TT seems to be the bad one here?)

Thanks, at least something we can look up except for CCR5d32, no SNPs listed and the wildtype appears to provide better protection or recovery.

RESULTS:

IL28B CC, CT, and TT genotypes were found in 35.4%, 50%, and 14.6% of patients and corresponded to spontaneous clearance rates of 50%, 21.2%, and 12.1%....
 

SOC

Senior Member
Messages
7,849
Does that mean there is a test to confirm one currently has HHV6 or a prior infection like titer for EBV?

The similarity between EBV and HHV6 is high. Both are herpesviruses that remain latent in the body. 90-something percent of adults have both infections in latent form as well as antibodies to the virus. An acute or new infection of either infection can be detected in the early weeks because there are IgM antibodies which disappear in a few weeks. IgG antibodies develop later and are the ones that (should) provide immunity to being reinfected.

Chronic infections of both viruses are more difficult to detect. This is why there's so much controversy about whether people have chronic EBV, HHV6 (or CMV) -- there's not a definitive test that will detect chronic infections.
 

roxie60

Senior Member
Messages
1,791
Location
Central Illinois, USA
So , as I suspect, I could have a recurring viral infection that I believe lasts 6-8 weeks (crash periods) and then recovery periods. But since they do not test my blood when I tell them I feel the worse, they usually wait til I'm not so bad (go figure, why dont they listen to us, we have to live with these bodies) and thus low titers. Although I dont think I have been tested for HHV6.
 

SOC

Senior Member
Messages
7,849
So , as I suspect, I could have a recurring viral infection that I believe lasts 6-8 weeks (crash periods) and then recovery periods. But since they do not test my blood when I tell them I feel the worse, they usually wait til I'm not so bad (go figure, why dont they listen to us, we have to live with these bodies) and thus low titers. Although I dont think I have been tested for HHV6.

I certainly appeared to me that my flu-like symptoms -- sore throat, swollen glands, muscle aches, exhaustion -- were reactivations of a herpesvirus, probably HHV6. Those symptoms disappeared from my crashes after Valcyte and Valtrex treatment. I still have PEM, but not viral symptoms.
 

roxie60

Senior Member
Messages
1,791
Location
Central Illinois, USA
I certainly appeared to me that my flu-like symptoms -- sore throat, swollen glands, muscle aches, exhaustion -- were reactivations of a herpesvirus, probably HHV6. Those symptoms disappeared from my crashes after Valcyte and Valtrex treatment. I still have PEM, but not viral symptoms.

Wrote a good reply but lost it all but a friggen comma, maybe i'll try agina later.