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RE: shortness of breath

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Steve, I'm no expert, so I can only quote the experts. Here's a few links

with brief quotes that might help answer some of your questions and give

food for metabolic thought.

http://www.spiralnotebook.org/inthelongrun/index.html

, MD: " Although fatty acids are not used at the beginning of

exercise, they become increasingly important after 20-30 minutes of

endurance exercise, and after an hour, they represent the major energy

supply. Consequently defects in lipid metabolism give rise to symptoms after

sustained activity. "

http://www.spiralnotebook.org/splitthedifference/index.html

Symptom comparison chart of carbohydrate defect (McArdles) with FAO defect

(CPT def). Note that " second wind " is associated with carbohydrate defect

rather than FAO defect. This makes sense, given the way muscle uses fuel.

http://www.spiralnotebook.org/batterynotincluded/index.html

, MD: " It should be noted that a tissue in which ATP levels

are depleted is probably dead tissue. Even in the metabolic myopathies, the

muscle seldom reaches this critical state. What does happen, however, is

that most of the support pathways are overworked with the production of

unwelcome by-products which are probably responsible for the symptoms. " [

Adds interesting dimension and complexity to interpreting individual

response to exercise.]

Agreed, your lipomas would surely be an accumulation of fatty acids--that's

nature of the beast, isn't it?---but do " we " (the royal scientific " we " )

really know that all your symptoms are coming from the same source--MERRF?

There are a significant number of cases where people have two defects in

different metabolic cycles or are carriers for two different defects or have

one primary defect and are also carriers for another, or have one genetic

defect and some other acquired non-genetic pathology that may impact on

response to exercise. Also cases where a defect in one metabolic cycle

secondarily impairs another metabolic cycle. Many

possibilities.....including anomalies. Maybe you're just an anomaly? :-)

Small comfort, I know.

Barbara

> I guess it's safe to say that there are a wide variety of metabolic

" locations " for the

> breakage when mito function goes wrong, either IN the mitochondria (resp.

chain)

> or in various transportation across membranes. That's why I'm so

interested in the

> specific clusters for SOB reports. And why I'm describing my own cluster,

i.e.

> looking for similiarities and differences amongst us, that might

especially lead to

> better coping.

>

> I've always assumed that I have a FAOD, partly because of my " second wind "

> symptoms and partly because I also have MSL whose physical presentation is

> large lipomas (filled with brown-fat cells, as currently understood, I

think). Not much

> is known as to why these cells " sequester " so, instead of the usual body

storage

> patterns (i.e. more muscle-interspersed), in fact I guess that's the

central issue.

> These are proliferating but not " cancer " because it doesn't metastatize.

But they

> certainly enlarge, and even start in new places, so I question the VALUE

of making

> that distinction. After all, it DOES kill by mass effect, just like many

cancers.

>

> But back to another point, for me this second wind could be due to FAO

working

> correctly, but the " easier " glucose metabolism could be broken, if I put

your

> comments together correctly. So perhaps my lipomas are the result of

glucose

> problems after all? Hmmm. I also have " unexplained " syndrome X (is that

the right

> word? aka the metabolic syndrome?) and questionable glucose tolerance

numbers.

> And fatty liver (hepatic steatosis), and high blood triglycerides. CLEARLY

it's all

> related, but I don't understand enough of HOW.

>

> By the way, this reported second-wind behavior is for someone with MERRF

(me).

> Seems that the ME (myoclonus epilepsy) part of MERRF implies some problem

> with nerve conduction, either sensory or motor. Sensory problems would

relate to

> PN, and motor problems would be the single body jerks. These happen for me

> every once in a while, typically once at night when very relaxed. Funny,

when I was

> little (and the jerks were rare) I thought everyone had these. Does anyone

know

> more about PN causation in mito, as compared to diabetic PN? I think I

read

> somewhere about demyelinating action, related to certain fats (as in the

" Lorenzo's

> Oil " disease). For ME, I would suppose it's the same underlying mechanism,

but in

> motor nerves.

>

> Please anyone, comment on above if inaccurate, or you have more

information,

> etc.

>

> Steve D.

> Some questions

> > > >

> > > >

> > > > Hi, I just joined your group. I received your welcome letter

and

> > > > responded. I would like to know if anyone can answer some

questions?

> > > > Is this where I would go and ask them? One of my questions is

about

> > > > breathing. Any suggestions. My doctors say, my lungs are clear

and

> > my

> > > > heart is not causing this shortness of breath. But upon

reading some

> > > > sites about this mito disease it affects breathing. I feel

short of

> > > > breath upon any type of exertion. I have not seen my

neurologist yet

> > > > to discuss this disease. We just got back the biopsy and blood

work

> > to

> > > > determine this is what I have. I also have trouble getting

around

> > when

> > > > walking, between the breathing and the stiffness and hurting

> > muscles,

> > > > even pushing the shopping cart kills me. Any ideas?

>

>

>

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The way I remember is that fat is hard to lose, so it must burn last,

alass, leaving me overweight. :-)

Steve wrote:

>The way I " use " to remember the order, is to realize that glucose is a simple

sugar, that burns first (like kindling, fast but not producing a lot of energy).

The metabolic route that fatty acids take, in order to get burned in the

mitochondria, is fraught with hazards, because the fat molecule is much larger,

and also needs lipid solubility (at least) for transport. Worse, the long chain

fatty acids need carnitine assist. All worth it of course, because (a) the body

can store a LOT of fat, and (B) burning fat is high energy. But of course,

Barbara is inserting into the order an even-earlier source of energy, whereas

the order we're discussing is between two substance categories, both

blood-borne. If I understand it, muscle glycogen is converted to glucose at some

point before cellular utilization, so the " hazards " should be similiar for blood

glucose.

>

>I guess it's safe to say that there are a wide variety of metabolic " locations "

for the breakage when mito function goes wrong, either IN the mitochondria

(resp. chain) or in various transportation across membranes. That's why I'm so

interested in the specific clusters for SOB reports. And why I'm describing my

own cluster, i.e. looking for similiarities and differences amongst us, that

might especially lead to better coping.

>

>I've always assumed that I have a FAOD, partly because of my " second wind "

symptoms and partly because I also have MSL whose physical presentation is large

lipomas (filled with brown-fat cells, as currently understood, I think). Not

much is known as to why these cells " sequester " so, instead of the usual body

storage patterns (i.e. more muscle-interspersed), in fact I guess that's the

central issue. These are proliferating but not " cancer " because it doesn't

metastatize. But they certainly enlarge, and even start in new places, so I

question the VALUE of making that distinction. After all, it DOES kill by mass

effect, just like many cancers.

>

>But back to another point, for me this second wind could be due to FAO working

correctly, but the " easier " glucose metabolism could be broken, if I put your

comments together correctly. So perhaps my lipomas are the result of glucose

problems after all? Hmmm. I also have " unexplained " syndrome X (is that the

right word? aka the metabolic syndrome?) and questionable glucose tolerance

numbers. And fatty liver (hepatic steatosis), and high blood triglycerides.

CLEARLY it's all related, but I don't understand enough of HOW.

>

>By the way, this reported second-wind behavior is for someone with MERRF (me).

Seems that the ME (myoclonus epilepsy) part of MERRF implies some problem with

nerve conduction, either sensory or motor. Sensory problems would relate to PN,

and motor problems would be the single body jerks. These happen for me every

once in a while, typically once at night when very relaxed. Funny, when I was

little (and the jerks were rare) I thought everyone had these. Does anyone know

more about PN causation in mito, as compared to diabetic PN? I think I read

somewhere about demyelinating action, related to certain fats (as in the

" Lorenzo's Oil " disease). For ME, I would suppose it's the same underlying

mechanism, but in motor nerves.

>

>Please anyone, comment on above if inaccurate, or you have more information,

etc.

>

>Steve D.

> Some questions

> > > >

> > > >

> > > > Hi, I just joined your group. I received your welcome letter and

> > > > responded. I would like to know if anyone can answer some

questions?

> > > > Is this where I would go and ask them? One of my questions is about

> > > > breathing. Any suggestions. My doctors say, my lungs are clear and

> > my

> > > > heart is not causing this shortness of breath. But upon reading

some

> > > > sites about this mito disease it affects breathing. I feel short of

> > > > breath upon any type of exertion. I have not seen my neurologist

yet

> > > > to discuss this disease. We just got back the biopsy and blood work

> > to

> > > > determine this is what I have. I also have trouble getting around

> > when

> > > > walking, between the breathing and the stiffness and hurting

> > muscles,

> > > > even pushing the shopping cart kills me. Any ideas?

>

>

>

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