Re: Information on the SUOX gene test?

[Guest guest]

I don't know about that but I believe she rarely sees SUOX mutations

anyway, meaning they might be significant (i.e. low prevalence high

penetrance)

>

> I am looking for any study regarding the sulfite oxidase (SUOX)

> enzyme polymorphism S370S that some people here have been tested for

> (as part of the Yasko tests). The S370S SNP was discovered in a

> 2002 case study on a newborn child with a SUOX deficiency. S370S is

> mentioned as an aside in that study, as the real cause of the

> deficiency was a severe mutation. The child eventually died due to

> that mutation. However, interestingly, even though the parents were

> both heterozygous carriers of that mutation, such that " sulfite

> oxidase activity in protein encoded by the affected allele " was

> completely abolished, the parents still displayed " no clinical

> symptoms. "

>

> The reason for this finding, is actually not too surprising. This

> is due to the fact that a person's sulfite oxidizing capacity, is

> far greater than the amount of sulfite one is normally exposed to.

> To quote a 1988 article on SUOX:

>

> " From measurements of sulfite oxidase activity and autopsy samples

> of human liver it has been estimated that the total sulfite

> oxidizing capacity of the adult liver is 4000 to 8000 mmol/day,

> compared to the average endogenous production of 25 mmol/day and a

> maximum exogenous intake of 2.5 mmol/day. "

>

> A reduction of the activity of an enzyme doesn't necessarily lead to

> a reduction of the enzmatic process. For certain processes, the

> quantity of an enzyme is able to make up for a reduction of the

> quality of the enzyme. This is most likely the case for SUOX.

>

> I've not found any study which shows that a common SUOX polymorphism

> results in lower SUOX activity, as measured by specific tests for a

> SUOX deficiency, such as elevated urinary S-sulfocysteine. If

> anyone knows of such studies, please email me. Thanks! - Mark

>

[Guest guest]

Well I am SUOX +/- and it makes me even more sensitive to sullfur. I am also CBS

upregulated.

Janet

jill1313 <jenbooks13@...> wrote:

I don't know about that but I believe she rarely sees SUOX mutations

anyway, meaning they might be significant (i.e. low prevalence high

penetrance)

>

> I am looking for any study regarding the sulfite oxidase (SUOX)

> enzyme polymorphism S370S that some people here have been tested for

> (as part of the Yasko tests). The S370S SNP was discovered in a

> 2002 case study on a newborn child with a SUOX deficiency. S370S is

> mentioned as an aside in that study, as the real cause of the

> deficiency was a severe mutation. The child eventually died due to

> that mutation. However, interestingly, even though the parents were

> both heterozygous carriers of that mutation, such that " sulfite

> oxidase activity in protein encoded by the affected allele " was

> completely abolished, the parents still displayed " no clinical

> symptoms. "

>

> The reason for this finding, is actually not too surprising. This

> is due to the fact that a person's sulfite oxidizing capacity, is

> far greater than the amount of sulfite one is normally exposed to.

> To quote a 1988 article on SUOX:

>

> " From measurements of sulfite oxidase activity and autopsy samples

> of human liver it has been estimated that the total sulfite

> oxidizing capacity of the adult liver is 4000 to 8000 mmol/day,

> compared to the average endogenous production of 25 mmol/day and a

> maximum exogenous intake of 2.5 mmol/day. "

>

> A reduction of the activity of an enzyme doesn't necessarily lead to

> a reduction of the enzmatic process. For certain processes, the

> quantity of an enzyme is able to make up for a reduction of the

> quality of the enzyme. This is most likely the case for SUOX.

>

> I've not found any study which shows that a common SUOX polymorphism

> results in lower SUOX activity, as measured by specific tests for a

> SUOX deficiency, such as elevated urinary S-sulfocysteine. If

> anyone knows of such studies, please email me. Thanks! - Mark

>

[Guest guest]

I remember. But I'm fairly certain (could be wrong) that's unusual.

-- In , Janet s <jgstev716@...>

wrote:

>

> Well I am SUOX +/- and it makes me even more sensitive to sullfur. I

am also CBS upregulated.

>

> Janet

>

> jill1313 <jenbooks13@...> wrote:

> I don't know about that but I believe she rarely sees SUOX

mutations

> anyway, meaning they might be significant (i.e. low prevalence high

> penetrance)

>

>

> >

> > I am looking for any study regarding the sulfite oxidase (SUOX)

> > enzyme polymorphism S370S that some people here have been tested for

> > (as part of the Yasko tests). The S370S SNP was discovered in a

> > 2002 case study on a newborn child with a SUOX deficiency. S370S is

> > mentioned as an aside in that study, as the real cause of the

> > deficiency was a severe mutation. The child eventually died due to

> > that mutation. However, interestingly, even though the parents were

> > both heterozygous carriers of that mutation, such that " sulfite

> > oxidase activity in protein encoded by the affected allele " was

> > completely abolished, the parents still displayed " no clinical

> > symptoms. "

> >

> > The reason for this finding, is actually not too surprising. This

> > is due to the fact that a person's sulfite oxidizing capacity, is

> > far greater than the amount of sulfite one is normally exposed to.

> > To quote a 1988 article on SUOX:

> >

> > " From measurements of sulfite oxidase activity and autopsy samples

> > of human liver it has been estimated that the total sulfite

> > oxidizing capacity of the adult liver is 4000 to 8000 mmol/day,

> > compared to the average endogenous production of 25 mmol/day and a

> > maximum exogenous intake of 2.5 mmol/day. "

> >

> > A reduction of the activity of an enzyme doesn't necessarily lead to

> > a reduction of the enzmatic process. For certain processes, the

> > quantity of an enzyme is able to make up for a reduction of the

> > quality of the enzyme. This is most likely the case for SUOX.

> >

> > I've not found any study which shows that a common SUOX polymorphism

> > results in lower SUOX activity, as measured by specific tests for a

> > SUOX deficiency, such as elevated urinary S-sulfocysteine. If

> > anyone knows of such studies, please email me. Thanks! - Mark

> >

>

>

>

>

>

>

>

[Guest guest]

From my reading of studies, there's a difference between being

sensitive to sulfite, having elevated serum sulfite, and having a

reduction of SUOX activity. You can have elevated serum sulfite,

and still have normal SUOX activity.

So, I don't think the SUOX S370S test is a valid way of determining

sulfite sensitivity.

FWIW, elevated urinary taurine is one sign of decreased sulfite

oxidation. But it's not specific for that problem. However, I

would think it's probably a more easily obtained test, and would

tell you something is imbalanced in the sulfur metaoblism paths.

> > >

> > > I am looking for any study regarding the sulfite oxidase

(SUOX)

> > > enzyme polymorphism S370S that some people here have been

tested for

> > > (as part of the Yasko tests). The S370S SNP was discovered in

a

> > > 2002 case study on a newborn child with a SUOX deficiency.

S370S is

> > > mentioned as an aside in that study, as the real cause of the

> > > deficiency was a severe mutation. The child eventually died

due to

> > > that mutation. However, interestingly, even though the parents

were

> > > both heterozygous carriers of that mutation, such

that " sulfite

> > > oxidase activity in protein encoded by the affected allele "

was

> > > completely abolished, the parents still displayed " no clinical

> > > symptoms. "

> > >

> > > The reason for this finding, is actually not too surprising.

This

> > > is due to the fact that a person's sulfite oxidizing capacity,

is

> > > far greater than the amount of sulfite one is normally exposed

to.

> > > To quote a 1988 article on SUOX:

> > >

> > > " From measurements of sulfite oxidase activity and autopsy

samples

> > > of human liver it has been estimated that the total sulfite

> > > oxidizing capacity of the adult liver is 4000 to 8000

mmol/day,

> > > compared to the average endogenous production of 25 mmol/day

and a

> > > maximum exogenous intake of 2.5 mmol/day. "

> > >

> > > A reduction of the activity of an enzyme doesn't necessarily

lead to

> > > a reduction of the enzmatic process. For certain processes,

the

> > > quantity of an enzyme is able to make up for a reduction of

the

> > > quality of the enzyme. This is most likely the case for SUOX.

> > >

> > > I've not found any study which shows that a common SUOX

polymorphism

> > > results in lower SUOX activity, as measured by specific tests

for a

> > > SUOX deficiency, such as elevated urinary S-sulfocysteine. If

> > > anyone knows of such studies, please email me. Thanks! - Mark

> > >

> >

> >

> >

> >

> >

> >

> >

[Guest guest]

It seems to me, as I said before, your questions would best be

answered by assembling them and giving them to Rich, who noted he

will be asking questions of her for CFS'ers in late October. Posting

to the list hasn't gotten you a lot of information or citations that

you have been asking for; unless, on the other hand, you are trying

to indicate to the list that you don't believe her genetic testing

is valid.

I have to say that it's encouraging reading posts on autismanswer.

And at the point I'm at in reading Genetic Bypass, she notes that

aluminum suppresses bh4. Interestingly, the mom of a recovering

autistic child doing her program, showed me a urine toxic metals

test that was just taken, a few weeks after putting her son on bh4

(he had been on biothyro before). His aluminum dump is very high now.

So I think that 1) for those of us interested, we either go with it

or not and 2) for those who have questions they are probably best

addressed through Rich since he offered to do it and the opportunity

is coming up. That's just my opinion of course.

> > > >

> > > > I am looking for any study regarding the sulfite oxidase

> (SUOX)

> > > > enzyme polymorphism S370S that some people here have been

> tested for

> > > > (as part of the Yasko tests). The S370S SNP was discovered

in

> a

> > > > 2002 case study on a newborn child with a SUOX deficiency.

> S370S is

> > > > mentioned as an aside in that study, as the real cause of

the

> > > > deficiency was a severe mutation. The child eventually died

> due to

> > > > that mutation. However, interestingly, even though the

parents

> were

> > > > both heterozygous carriers of that mutation, such

> that " sulfite

> > > > oxidase activity in protein encoded by the affected allele "

> was

> > > > completely abolished, the parents still displayed " no

clinical

> > > > symptoms. "

> > > >

> > > > The reason for this finding, is actually not too surprising.

> This

> > > > is due to the fact that a person's sulfite oxidizing

capacity,

> is

> > > > far greater than the amount of sulfite one is normally

exposed

> to.

> > > > To quote a 1988 article on SUOX:

> > > >

> > > > " From measurements of sulfite oxidase activity and autopsy

> samples

> > > > of human liver it has been estimated that the total sulfite

> > > > oxidizing capacity of the adult liver is 4000 to 8000

> mmol/day,

> > > > compared to the average endogenous production of 25 mmol/day

> and a

> > > > maximum exogenous intake of 2.5 mmol/day. "

> > > >

> > > > A reduction of the activity of an enzyme doesn't necessarily

> lead to

> > > > a reduction of the enzmatic process. For certain processes,

> the

> > > > quantity of an enzyme is able to make up for a reduction of

> the

> > > > quality of the enzyme. This is most likely the case for SUOX.

> > > >

> > > > I've not found any study which shows that a common SUOX

> polymorphism

> > > > results in lower SUOX activity, as measured by specific

tests

> for a

> > > > SUOX deficiency, such as elevated urinary S-sulfocysteine.

If

> > > > anyone knows of such studies, please email me. Thanks! - Mark

> > > >

> > >

> > >

> > >

> > >

> > >

> > >

> > >

[Guest guest]

Jill, You mentioned the article in the October issue of National Geographic

magazine. I got the copy of it and haven't read the article yet, but it's

gratifying to know that the mainstream media is getting the message. This

group and you in particular have given us much info on the cutting edge of

discovery. Again, we are the canaries I think and what you pass on from all

your efforts is confirming our threads of understanding what is happening to us

and mayby how to at least hault the direction. I like to say, if we don't

change directions we'll end up where we're headed. Thus all of us thinking and

talking about this a lot. The direction can look pretty dire. But the light

may really be at the end of the tunnel.

Edy

jill1313 <jenbooks13@...> wrote:

It seems to me, as I said before, your questions would best be

answered by assembling them and giving them to Rich, who noted he

will be asking questions of her for CFS'ers in late October. Posting

to the list hasn't gotten you a lot of information or citations that

you have been asking for; unless, on the other hand, you are trying

to indicate to the list that you don't believe her genetic testing

is valid.

I have to say that it's encouraging reading posts on autismanswer.

And at the point I'm at in reading Genetic Bypass, she notes that

aluminum suppresses bh4. Interestingly, the mom of a recovering

autistic child doing her program, showed me a urine toxic metals

test that was just taken, a few weeks after putting her son on bh4

(he had been on biothyro before). His aluminum dump is very high now.

So I think that 1) for those of us interested, we either go with it

or not and 2) for those who have questions they are probably best

addressed through Rich since he offered to do it and the opportunity

is coming up. That's just my opinion of course.

> > > >

> > > > I am looking for any study regarding the sulfite oxidase

> (SUOX)

> > > > enzyme polymorphism S370S that some people here have been

> tested for

> > > > (as part of the Yasko tests). The S370S SNP was discovered

in

> a

> > > > 2002 case study on a newborn child with a SUOX deficiency.

> S370S is

> > > > mentioned as an aside in that study, as the real cause of

the

> > > > deficiency was a severe mutation. The child eventually died

> due to

> > > > that mutation. However, interestingly, even though the

parents

> were

> > > > both heterozygous carriers of that mutation, such

> that " sulfite

> > > > oxidase activity in protein encoded by the affected allele "

> was

> > > > completely abolished, the parents still displayed " no

clinical

> > > > symptoms. "

> > > >

> > > > The reason for this finding, is actually not too surprising.

> This

> > > > is due to the fact that a person's sulfite oxidizing

capacity,

> is

> > > > far greater than the amount of sulfite one is normally

exposed

> to.

> > > > To quote a 1988 article on SUOX:

> > > >

> > > > " From measurements of sulfite oxidase activity and autopsy

> samples

> > > > of human liver it has been estimated that the total sulfite

> > > > oxidizing capacity of the adult liver is 4000 to 8000

> mmol/day,

> > > > compared to the average endogenous production of 25 mmol/day

> and a

> > > > maximum exogenous intake of 2.5 mmol/day. "

> > > >

> > > > A reduction of the activity of an enzyme doesn't necessarily

> lead to

> > > > a reduction of the enzmatic process. For certain processes,

> the

> > > > quantity of an enzyme is able to make up for a reduction of

> the

> > > > quality of the enzyme. This is most likely the case for SUOX.

> > > >

> > > > I've not found any study which shows that a common SUOX

> polymorphism

> > > > results in lower SUOX activity, as measured by specific

tests

> for a

> > > > SUOX deficiency, such as elevated urinary S-sulfocysteine.

If

> > > > anyone knows of such studies, please email me. Thanks! - Mark

> > > >

> > >

> > >

> > >

> > >

> > >

> > >

> > >

[Guest guest]

I like to hear from Mark as well as Rich. Jill's idea of limiting

information to one source is repugnant to seeking the truth.

[Guest guest]

Hi, Mark.

As I've said, I think you are asking some very good questions.

I don't know if you are a member of the sulfurstories list, but if

not, I think it would be mutually beneficial for you and for the

people there if you would post your thoughts there as well.

Owens, who runs the group, has studied sulfur metabolism for 11

years. I think you would find that her approach and her positions

are much like yours. She takes an orthodox scientific approach,

relying on peer-reviewed publications. I have met her, and I have a

high regard for her. There are also others there who have had

experience with Amy Yasko's treatment program, and there have been

some lively discussions between them and . I don't think any of

us have the last word on these things yet, but that seems to be a

good forum for kicking things around.

The group can be found at

sulfurstories/

Rich

> > > >

> > > > I am looking for any study regarding the sulfite oxidase

> (SUOX)

> > > > enzyme polymorphism S370S that some people here have been

> tested for

> > > > (as part of the Yasko tests). The S370S SNP was discovered

in

> a

> > > > 2002 case study on a newborn child with a SUOX deficiency.

> S370S is

> > > > mentioned as an aside in that study, as the real cause of

the

> > > > deficiency was a severe mutation. The child eventually died

> due to

> > > > that mutation. However, interestingly, even though the

parents

> were

> > > > both heterozygous carriers of that mutation, such

> that " sulfite

> > > > oxidase activity in protein encoded by the affected allele "

> was

> > > > completely abolished, the parents still displayed " no

clinical

> > > > symptoms. "

> > > >

> > > > The reason for this finding, is actually not too surprising.

> This

> > > > is due to the fact that a person's sulfite oxidizing

capacity,

> is

> > > > far greater than the amount of sulfite one is normally

exposed

> to.

> > > > To quote a 1988 article on SUOX:

> > > >

> > > > " From measurements of sulfite oxidase activity and autopsy

> samples

> > > > of human liver it has been estimated that the total sulfite

> > > > oxidizing capacity of the adult liver is 4000 to 8000

> mmol/day,

> > > > compared to the average endogenous production of 25 mmol/day

> and a

> > > > maximum exogenous intake of 2.5 mmol/day. "

> > > >

> > > > A reduction of the activity of an enzyme doesn't necessarily

> lead to

> > > > a reduction of the enzmatic process. For certain processes,

> the

> > > > quantity of an enzyme is able to make up for a reduction of

> the

> > > > quality of the enzyme. This is most likely the case for SUOX.

> > > >

> > > > I've not found any study which shows that a common SUOX

> polymorphism

> > > > results in lower SUOX activity, as measured by specific

tests

> for a

> > > > SUOX deficiency, such as elevated urinary S-sulfocysteine.

If

> > > > anyone knows of such studies, please email me. Thanks! - Mark

> > > >

> > >

> > >

> > >

> > >

> > >

> > >

> > >

[Guest guest]

> It seems to me, as I said before, your questions would best be

> answered by assembling them and giving them to Rich, who noted he

> will be asking questions of her for CFS'ers in late October.

Posting

> to the list hasn't gotten you a lot of information or citations

that

> you have been asking for; unless, on the other hand, you are

trying

> to indicate to the list that you don't believe her genetic testing

> is valid.

Actually, what I'm trying to do it to stimulate other people to do

some research themselves, rather than accept without questioning,

whether testing certain SNPs are a valid way of making a diagnosis

of what is wrong with you. Obviously, some of the mentioned SNPs

definitely do have an effect, as verified by medical studies. But

the claims about a few, CBS, COMT, & SUOX, are not backed up by the

medical literature, that I can find on them.

Also, SNPs only influence processes in your body. They don't

guarantee that they will have an actual effect, as other SNPs might

be present that aren't being tested for, that may have an opposite

effect. Studies on some SNPs show totally opposite results in

different ethnic populations, due to the existant of other SNPs that

might be more likely present in one group but not another. Gender

and age are other variables. Also, some SNPs have a greater affect

than others. They are different forms of SNPs. For example, the

CBS and SUOX SNPs are " silent " polymorphisms. Some have a stronger

influence than others.

Unless you have a study which definitely shows a strong connection

between an SNP and a certain condition, IMHO, testing for SNP will

limited use, unless it's also backed up with real lab tests, to

confirm what the SNPs might infer.

And any success with treating autism with a certain treatment, does

not mean that treating other conditions with the same condition will

have similar success. It is well documented in the medical

literature that autism is associated with certain SNPs and

metabolism problems. The same problems have not been documented (at

least so far) for CFS/fibromyalgia. (Does autism cause CFS or

fibromyalgia?)

Plus, the success of a treatment plan, does not mean that the theory

behind the treatment plan is valid. The remedies being used by

Yasko have many different and good effects. They can be helpful for

an individual for many reasons.

> I have to say that it's encouraging reading posts on autismanswer.

> And at the point I'm at in reading Genetic Bypass, she notes that

> aluminum suppresses bh4. Interestingly, the mom of a recovering

> autistic child doing her program, showed me a urine toxic metals

> test that was just taken, a few weeks after putting her son on bh4

> (he had been on biothyro before). His aluminum dump is very high

now.

I can see how aluminum can suppress bh4, by reducing

dihydropteridine reductase activity. But I don't see how bh4 can

affect aluminum excretion.

- Mark

[Guest guest]

I am very glad to have new hope. And I am glad autistic kids are getting better.

But I am very thankful for Mark's questions. For me the proof of the pudding is

in the eating. I mean, I don't need to know WHY the electric switch works to

benefit from the light, but since we have so little data-almost none- that shows

this program works for us, I think Mark's rational questions are as appropriate

here as any that have ever been posted. Why in the world try to squelch them?

After all, inquiring minds need to know. He is raising serious issues, and I

would love to hear the answers, one way or another. Why should I, who could not

possibly formulate such questions, be denied hearing them?

Of course it is also questionable whether any of this dialog still belongs on

this list.

Please keep asking away, Mark. I understand science just enough to know how

complicated it can all be, and no reason to oversimplify.

Adrienne

Re: Information on the SUOX gene test?

It seems to me, as I said before, your questions would best be

answered by assembling them and giving them to Rich, who noted he

will be asking questions of her for CFS'ers in late October. Posting

to the list hasn't gotten you a lot of information or citations that

you have been asking for; unless, on the other hand, you are trying

to indicate to the list that you don't believe her genetic testing

is valid.

I have to say that it's encouraging reading posts on autismanswer.

And at the point I'm at in reading Genetic Bypass, she notes that

aluminum suppresses bh4. Interestingly, the mom of a recovering

autistic child doing her program, showed me a urine toxic metals

test that was just taken, a few weeks after putting her son on bh4

(he had been on biothyro before). His aluminum dump is very high now.

So I think that 1) for those of us interested, we either go with it

or not and 2) for those who have questions they are probably best

addressed through Rich since he offered to do it and the opportunity

is coming up. That's just my opinion of course.

> > > >

> > > > I am looking for any study regarding the sulfite oxidase

> (SUOX)

> > > > enzyme polymorphism S370S that some people here have been

> tested for

> > > > (as part of the Yasko tests). The S370S SNP was discovered

in

> a

> > > > 2002 case study on a newborn child with a SUOX deficiency.

> S370S is

> > > > mentioned as an aside in that study, as the real cause of

the

> > > > deficiency was a severe mutation. The child eventually died

> due to

> > > > that mutation. However, interestingly, even though the

parents

> were

> > > > both heterozygous carriers of that mutation, such

> that " sulfite

> > > > oxidase activity in protein encoded by the affected allele "

> was

> > > > completely abolished, the parents still displayed " no

clinical

> > > > symptoms. "

> > > >

> > > > The reason for this finding, is actually not too surprising.

> This

> > > > is due to the fact that a person's sulfite oxidizing

capacity,

> is

> > > > far greater than the amount of sulfite one is normally

exposed

> to.

> > > > To quote a 1988 article on SUOX:

> > > >

> > > > " From measurements of sulfite oxidase activity and autopsy

> samples

> > > > of human liver it has been estimated that the total sulfite

> > > > oxidizing capacity of the adult liver is 4000 to 8000

> mmol/day,

> > > > compared to the average endogenous production of 25 mmol/day

> and a

> > > > maximum exogenous intake of 2.5 mmol/day. "

> > > >

> > > > A reduction of the activity of an enzyme doesn't necessarily

> lead to

> > > > a reduction of the enzmatic process. For certain processes,

> the

> > > > quantity of an enzyme is able to make up for a reduction of

> the

> > > > quality of the enzyme. This is most likely the case for SUOX.

> > > >

> > > > I've not found any study which shows that a common SUOX

> polymorphism

> > > > results in lower SUOX activity, as measured by specific

tests

> for a

> > > > SUOX deficiency, such as elevated urinary S-sulfocysteine.

If

> > > > anyone knows of such studies, please email me. Thanks! - Mark

> > > >

> > >

> > >

> > >

> > >

> > >

> > >

> > >

[Guest guest]

Mark,

In the post below you mention that due to the complex interactions of

multiple mutations, just testing for a few SNPs does not give the whole

picture. Then at the end of this post you stated that you could see how

aluminum could alter dihydropteridine reductase levels but not how the

reverse could happen. Could that be one of those 'complex interactions'

that you described?

Maybe some other part of the protocol is responsible for the child's

aluminum excretion. But regardless, what grabs my attention about Yasko's

work is the results being reported. The theory is powerful, but the results

are what counts. And since early DNA evidence with PWC shows definite

genetic overlap with CFS, I think we have every reason to seriously explore

this avenue.

But I am also a realist and agree that we need to not oversell this angle.

Yasko's protocol may be yet another great CFS protocol that helps people

differentially, giving improvement to many but not cure, etc. My own view

is that the major risk is that the adult exposures to toxins over decades

will be too profound to reverse as rapidly as the autistic children

reverse. I believe we will need a more involved detox protocol than the

kids require, and that must be worked into the equation. Also, we have more

stress load (which lowers glutathione), and have probably accumulated more

bugs. And we may have different levels of neurological injury. So my

emerging belief about all this is that the solution may involve not only the

Yasko protocol but also a heavy-duty detox protocol, abx for

biotoxin-producing bugs, heavy nutrient support for healing the nerves, and

re-working of the stress resonse which has probably been significantly

altered by years of CFS.

--Kurt

On 9/27/06, Mark London <mrl@...> wrote:

>

>

> > It seems to me, as I said before, your questions would best be

> > answered by assembling them and giving them to Rich, who noted he

> > will be asking questions of her for CFS'ers in late October.

> Posting

> > to the list hasn't gotten you a lot of information or citations

> that

> > you have been asking for; unless, on the other hand, you are

> trying

> > to indicate to the list that you don't believe her genetic testing

> > is valid.

>

> Actually, what I'm trying to do it to stimulate other people to do

> some research themselves, rather than accept without questioning,

> whether testing certain SNPs are a valid way of making a diagnosis

> of what is wrong with you. Obviously, some of the mentioned SNPs

> definitely do have an effect, as verified by medical studies. But

> the claims about a few, CBS, COMT, & SUOX, are not backed up by the

> medical literature, that I can find on them.

>

> Also, SNPs only influence processes in your body. They don't

> guarantee that they will have an actual effect, as other SNPs might

> be present that aren't being tested for, that may have an opposite

> effect. Studies on some SNPs show totally opposite results in

> different ethnic populations, due to the existant of other SNPs that

> might be more likely present in one group but not another. Gender

> and age are other variables. Also, some SNPs have a greater affect

> than others. They are different forms of SNPs. For example, the

> CBS and SUOX SNPs are " silent " polymorphisms. Some have a stronger

> influence than others.

>

> Unless you have a study which definitely shows a strong connection

> between an SNP and a certain condition, IMHO, testing for SNP will

> limited use, unless it's also backed up with real lab tests, to

> confirm what the SNPs might infer.

>

> And any success with treating autism with a certain treatment, does

> not mean that treating other conditions with the same condition will

> have similar success. It is well documented in the medical

> literature that autism is associated with certain SNPs and

> metabolism problems. The same problems have not been documented (at

> least so far) for CFS/fibromyalgia. (Does autism cause CFS or

> fibromyalgia?)

>

> Plus, the success of a treatment plan, does not mean that the theory

> behind the treatment plan is valid. The remedies being used by

> Yasko have many different and good effects. They can be helpful for

> an individual for many reasons.

>

> > I have to say that it's encouraging reading posts on autismanswer.

> > And at the point I'm at in reading Genetic Bypass, she notes that

> > aluminum suppresses bh4. Interestingly, the mom of a recovering

> > autistic child doing her program, showed me a urine toxic metals

> > test that was just taken, a few weeks after putting her son on bh4

> > (he had been on biothyro before). His aluminum dump is very high

> now.

>

> I can see how aluminum can suppress bh4, by reducing

> dihydropteridine reductase activity. But I don't see how bh4 can

> affect aluminum excretion.

>

> - Mark

>

>

>

[Guest guest]

Hi, Mark.

" Mark London " <mrl@...> wrote:

>

>

> > It seems to me, as I said before, your questions would best be

> > answered by assembling them and giving them to Rich, who noted he

> > will be asking questions of her for CFS'ers in late October.

> Posting

> > to the list hasn't gotten you a lot of information or citations

> that

> > you have been asking for; unless, on the other hand, you are

> trying

> > to indicate to the list that you don't believe her genetic testing

> > is valid.

>

> Actually, what I'm trying to do it to stimulate other people to do

> some research themselves, rather than accept without questioning,

> whether testing certain SNPs are a valid way of making a diagnosis

> of what is wrong with you.

***This is a smart thing to regularly re-stimulate and I think many if not most

PWCs who

participate on this list over time do this, but the problem with SNPs in CFS is

they simply

have not been studied at all to generate the kind of published literature we

ideally would

prefer to see. This is probably why this kind of questioning is more quiet for

the SNPs

issue here not to forget to mention that many of the SNPs being found in those

of us who

have done some testing along this line do show a striking direct correlation to

many of the

SNPs linked to autism, which has peer reviewed published literature for support.

Obviously, some of the mentioned SNPs

> definitely do have an effect, as verified by medical studies. But

> the claims about a few, CBS, COMT, & SUOX, are not backed up by the

> medical literature, that I can find on them.

***Checking ALL the links at pubmed for SNPs might prove more fruitful as well

as

checking the database resources of several of the genetic testing labs that have

cropped

up in recent years. Genovations, for example, has to have a basis for the

characterizations they make so confidently on the SNPs they test, COMT being one

example of one type that appears to have been extensively studied and

characterized in

several disorders(the don't use epinephrine anesthetics with those known to have

COMT

SNPs rule seems to go far back in medicine, so this suggests a studied basis for

this and I

certainly can confirm the characterization of the COMT variant I have seems

consistent in

me in this circumstance).

Also, SNPs only influence processes in your body. They don't

> guarantee that they will have an actual effect, as other SNPs might

> be present that aren't being tested for, that may have an opposite

> effect.

***This is true and a blind spot for those who don't get their GAR report. Dr

Cheney for

example found many SNPs in me tend to counter balance others that might othewise

be

problematic. But even more interesting now with the autism link hypothesis for

CFS is

several of the ones in which he found I have no counter balancing SNPs are ones

thought

to predispose glutathione depeltion as well as directly correlate to many of the

SNPs found

in autism(I would like to know specifically what the databases used to draw

these

conclusions are, perhaps Dr Yasko's book, " Genetic Bypass " , references some

besides her

own?).

Studies on some SNPs show totally opposite results in

> different ethnic populations, due to the existant of other SNPs that

> might be more likely present in one group but not another. Gender

> and age are other variables. Also, some SNPs have a greater affect

> than others. They are different forms of SNPs. For example, the

> CBS and SUOX SNPs are " silent " polymorphisms. Some have a stronger

> influence than others.

>

> Unless you have a study which definitely shows a strong connection

> between an SNP and a certain condition, IMHO, testing for SNP will

> limited use, unless it's also backed up with real lab tests, to

> confirm what the SNPs might infer.

***OR if you're finding(including non published data though not ideal) a strong

correlation

of SNPs to a certain condition that has been strongly studied in this way,

namely autism,

from the condition in which you are attempting to crack, namely ME/CFS. This

pathogenic correlation with autism is exactly what makes SNPs testing possibly

the most

useful of all possible tests to do.

***Your argument here however is consistent with the DAN! organization. They

de-

emphasize SNPs for status testing in autism while Dr Yasko and Rich see

clarifying SNPs as

a priority(FWIW, I happen to have come across what seems like more superior

results

reports from the Yasko approach for autism and I'm not someone doing any of her

treatments as applied to ME/CFS).

>

> And any success with treating autism with a certain treatment, does

> not mean that treating other conditions with the same condition will

> have similar success.

***We'll see about this. Its all experimental as usual of course on this list,

but we'll see.

So far my specific treatments for ME/CFS that some autistics have used are

providing the

same benefits they were reported to have gained.

It is well documented in the medical

> literature that autism is associated with certain SNPs and

> metabolism problems. The same problems have not been documented (at

> least so far) for CFS/fibromyalgia. (Does autism cause CFS or

> fibromyalgia?)

***Metabolicly, there is literature showing the same problems in glutathione

status in

these. I wish someone would do a SNPs study for ME/CFS specifically, but

barring that

ideal as far as experimental purposes go there is lots of evidence from

individual PWC

testing over the years showing patterns of many of the same problems, sufficient

enough

at least to risk the expense of new tests and treatments consistent with these

observations.

>

> Plus, the success of a treatment plan, does not mean that the theory

> behind the treatment plan is valid. The remedies being used by

> Yasko have many different and good effects. They can be helpful for

> an individual for many reasons.

***True, whatever the explanations are for success in treatment these

explanations remain

hypothetical. On the other hand, the sea captain who discovered the answer to

scurvey

roughly a few hundred years before it was proved beyond the realm of hypothesis

in

medical culture had the practical and factually correct answer at the point of

discovery.

> > I have to say that it's encouraging reading posts on autismanswer.

> > And at the point I'm at in reading Genetic Bypass, she notes that

> > aluminum suppresses bh4. Interestingly, the mom of a recovering

> > autistic child doing her program, showed me a urine toxic metals

> > test that was just taken, a few weeks after putting her son on bh4

> > (he had been on biothyro before). His aluminum dump is very high

> now.

>

> I can see how aluminum can suppress bh4, by reducing

> dihydropteridine reductase activity. But I don't see how bh4 can

> affect aluminum excretion.

>

> - Mark

>

***

[Guest guest]

Hi Mark,

Some of us are extemely grateful for your thought provoking posts, questions and

citations. AS you may know, but we all forget sometimes, there are many people

reading this list who are unable to post or articulate clearly enough what we

have learned, are thinking, or questioning.

I totally agree that we should not get blind, lazy or sheep-like on something

that has no results for our disease yet...We've always been interested in the

Experiments that some members choose to pursue, but never called any of them

" the answer " , even WITH some great results.

ME/CFS, Fukuda/CFS is too wide and complicated a field to stop with one

approach.

ANd genetics and all the variables is just a huge field, still a mystery even to

geneticists...I'd be incredulous if any one person, or anyone here, actually

thought they had it all figured out!

I'm fascinated with all of the complex interactions and variables you've spoken

of.

And I believe you are stimulating members own thinking in a very positive way.

Thank you very much and I hope you keep it up.

{AS for Rich's theories, he has always said he welcomes questions and

challenges, as many Scientists do, so I hope others will remember that. I've

even heard that a true Scientist sets out to *disprove* their own theories!}

But Mark's posts are beyond just Rich or Yasko or Autism...these are wide open

fields in Medicine and ME/CFS....with tremendous amount to learn, and totally

appropriate for the full list's discussion.

Katrina

> > It seems to me, as I said before, your questions would best be

> > answered by assembling them and giving them to Rich, who noted he

> > will be asking questions of her for CFS'ers in late October.

> Posting

> > to the list hasn't gotten you a lot of information or citations

> that

> > you have been asking for; unless, on the other hand, you are

> trying

> > to indicate to the list that you don't believe her genetic testing

> > is valid.

>

> Actually, what I'm trying to do it to stimulate other people to do

> some research themselves, rather than accept without questioning,

> whether testing certain SNPs are a valid way of making a diagnosis

> of what is wrong with you. Obviously, some of the mentioned SNPs

> definitely do have an effect, as verified by medical studies. But

> the claims about a few, CBS, COMT, & SUOX, are not backed up by the

> medical literature, that I can find on them.

>

> Also, SNPs only influence processes in your body. They don't

> guarantee that they will have an actual effect, as other SNPs might

> be present that aren't being tested for, that may have an opposite

> effect. Studies on some SNPs show totally opposite results in

> different ethnic populations, due to the existant of other SNPs that

> might be more likely present in one group but not another. Gender

> and age are other variables. Also, some SNPs have a greater affect

> than others. They are different forms of SNPs. For example, the

> CBS and SUOX SNPs are " silent " polymorphisms. Some have a stronger

> influence than others.

>

> Unless you have a study which definitely shows a strong connection

> between an SNP and a certain condition, IMHO, testing for SNP will

> limited use, unless it's also backed up with real lab tests, to

> confirm what the SNPs might infer.

>

> And any success with treating autism with a certain treatment, does

> not mean that treating other conditions with the same condition will

> have similar success. It is well documented in the medical

> literature that autism is associated with certain SNPs and

> metabolism problems. The same problems have not been documented (at

> least so far) for CFS/fibromyalgia. (Does autism cause CFS or

> fibromyalgia?)

>

> Plus, the success of a treatment plan, does not mean that the theory

> behind the treatment plan is valid. The remedies being used by

> Yasko have many different and good effects. They can be helpful for

> an individual for many reasons.

>

> > I have to say that it's encouraging reading posts on autismanswer.

> > And at the point I'm at in reading Genetic Bypass, she notes that

> > aluminum suppresses bh4. Interestingly, the mom of a recovering

> > autistic child doing her program, showed me a urine toxic metals

> > test that was just taken, a few weeks after putting her son on bh4

> > (he had been on biothyro before). His aluminum dump is very high

> now.

>

> I can see how aluminum can suppress bh4, by reducing

> dihydropteridine reductase activity. But I don't see how bh4 can

> affect aluminum excretion.

>

> - Mark

>