DNA mutation

[Guest guest]

Well an inborn error of metabolism is very much like mito disease, if not a part

of it. What it means is

that there is something wrong with the ability to metabolize fats, sugars or

proteins into energy and

transport it where it needs to go. This also defines what mitochondrial disease

is. Mitochondrial

disease is a disease of energy metabolism and transport.

The DNA is where the problem originates. Sometimes it comes from the mother or

mitochondrial DNA, which

are found in the mother's eggs before the baby is even conceived. If there is a

defect in mitochondrial

DNA then when the egg is fertilized and begins to divide the mutation can cause

different organ systems to

be affected depending on how the cell divides and how many " sick " mitochondrial

are in specific parts of

the cell.

If the " sick " mitochondria are spread out all over the cell when it divides and

no one cell division gets

all of them, then there may also be enough healthy mitochondria that what ever

organ system is formed from

that divided cell may not be symptomatic. But if several " sick " mito end up in

one part of the cell when

it divides then you end up with more symptoms in that particular organ system.

Each egg contains the defective mitochondria, so it isn't uncommon to see

several children in the family,

or a long family history of mitochondrial symptoms.

If the defect is in the nuclear DNA then it isn't as simple. The nuclear DNA

defects affects how the

specific proteins are formed that go on to form other organ systems and most

especially the enzymes that

make the respiratory chain, or the Kreb's cycle work. This is where food that

you eat and air that you

breath are turned into energy or ATP and transported to the rest of the body so

that organ systems can run

efficiently and so that you have the energy to get through the day. Muscles

need energy to function, and

so does each organ system. So if you have a nuclear defect that causes you not

to form part of that cycle

correctly, then you also have a disorder of energy metabolism.

These are two different origins for the same disease. It's just the genetic

part of it. When you get a

mitochondrial/metabolic evaluation they look for an error of defect in

metabolism and try to get a

specific diagnosis. In our family, the defect is at complex IV, many others on

the list, have a defect at

complex I. But the second part of the testing is to see how it got there - the

genetic information. So

that you will know where it came from and what the risks are for the rest of

your family.

> The doctor mentioned mutant DNA to her is that what a inborn error of

metabolism is and does that mean

> other children will be affected?

the DNA mutation causes the inborn error of metabolism. Without knowing the

exact mutation and being able

to identify it, it is impossible to tell if other children will be affected.

Even if you identify the

defect, other children may not be symptomatic. It is a very difficult issue.

> Is this a mito diagnosis?

Yes, I think many consider this a mitochondrial disease. But it is a very

specific type of mito disease

and there is still so little known about mitochondrial disease in general. I

was thinking that a friend

of mine has a child with a similar diagnosis, and I will check with her and see

if she can provide you

with any further information. Also the IEM list may be of some help too. It

doesn't seem to be as busy

as the mito lists, but there are more folks with the specific Inborn Errors of

Metabolism and you may also

be able to get more specific information there, regarding this specific

diagnosis.

Good luck,

Jeannine, mom to

Dalton, 20 yrs, ADD, LD, Presumed Complex IV

Genny, 17 yrs, Severe Autonomic Dysfunction, Presumed Complex IV

Caitlin, 11 yrs, Severe Autonomic Dysfunction, CIDP, Complex IV

[Guest guest]

WOW!!! Jeannine, that was an excellent explanation!!!! I've been looking

all over the internet, but that really broke it all down and made it

easy...thanks!

nicole

[Guest guest]

WOW!!! Jeannine, that was an excellent explanation!!!! I've been looking

all over the internet, but that really broke it all down and made it

easy...thanks!

nicole

[Guest guest]

All right Jeannine, If I understand this explanation, then if we have a

membrane defect caused by a nuclear DNA defect it could be affecting the

mitochondria but would be more accurately called an inborn error of

metabolism than specifically a mito disorder. Not being able to properly

process the biotin, B2, and B3, and sucking up 4 times the normal amt of

calcium is definitely an error in being able to metabolize nutrients which

in turns affects our ability to make energy but mainly because of the

hypometabolism and not the mitochondria themselves not being able to make

energy. In other words if they could get the proper nutrients the our

mitochondria may be able to work fine but because of a cell membrane defect

they cannot get what they need to work with to do their job right.

Does this sound like I'm on the right track here? Anyone who has an idea or

comment is welcome to respond. Jeannine just set me to thinking this out

maybe more clearly. I signed up for the IEM list, thank you for the

information. S.

DNA mutation

>

>

>Well an inborn error of metabolism is very much like mito disease, if not a

part of it. What it means is

>that there is something wrong with the ability to metabolize fats, sugars

or proteins into energy and

>transport it where it needs to go. This also defines what mitochondrial

disease is. Mitochondrial

>disease is a disease of energy metabolism and transport.

>

>The DNA is where the problem originates. Sometimes it comes from the

mother or mitochondrial DNA, which

>are found in the mother's eggs before the baby is even conceived. If there

is a defect in mitochondrial

>DNA then when the egg is fertilized and begins to divide the mutation can

cause different organ systems to

>be affected depending on how the cell divides and how many " sick "

mitochondrial are in specific parts of

>the cell.

>

>If the " sick " mitochondria are spread out all over the cell when it divides

and no one cell division gets

>all of them, then there may also be enough healthy mitochondria that what

ever organ system is formed from

>that divided cell may not be symptomatic. But if several " sick " mito end

up in one part of the cell when

>it divides then you end up with more symptoms in that particular organ

system.

>

>Each egg contains the defective mitochondria, so it isn't uncommon to see

several children in the family,

>or a long family history of mitochondrial symptoms.

>

>If the defect is in the nuclear DNA then it isn't as simple. The nuclear

DNA defects affects how the

>specific proteins are formed that go on to form other organ systems and

most especially the enzymes that

>make the respiratory chain, or the Kreb's cycle work. This is where food

that you eat and air that you

>breath are turned into energy or ATP and transported to the rest of the

body so that organ systems can run

>efficiently and so that you have the energy to get through the day.

Muscles need energy to function, and

>so does each organ system. So if you have a nuclear defect that causes you

not to form part of that cycle

>correctly, then you also have a disorder of energy metabolism.

>

>These are two different origins for the same disease. It's just the

genetic part of it. When you get a

>mitochondrial/metabolic evaluation they look for an error of defect in

metabolism and try to get a

>specific diagnosis. In our family, the defect is at complex IV, many

others on the list, have a defect at

>complex I. But the second part of the testing is to see how it got

there - the genetic information. So

>that you will know where it came from and what the risks are for the rest

of your family.

>

>

>> The doctor mentioned mutant DNA to her is that what a inborn error of

metabolism is and does that mean

>> other children will be affected?

>

>the DNA mutation causes the inborn error of metabolism. Without knowing

the exact mutation and being able

>to identify it, it is impossible to tell if other children will be

affected. Even if you identify the

>defect, other children may not be symptomatic. It is a very difficult

issue.

>

>> Is this a mito diagnosis?

>

>Yes, I think many consider this a mitochondrial disease. But it is a very

specific type of mito disease

>and there is still so little known about mitochondrial disease in general.

I was thinking that a friend

>of mine has a child with a similar diagnosis, and I will check with her and

see if she can provide you

>with any further information. Also the IEM list may be of some help too.

It doesn't seem to be as busy

>as the mito lists, but there are more folks with the specific Inborn Errors

of Metabolism and you may also

>be able to get more specific information there, regarding this specific

diagnosis.

>

>Good luck,

>Jeannine, mom to

>Dalton, 20 yrs, ADD, LD, Presumed Complex IV

>Genny, 17 yrs, Severe Autonomic Dysfunction, Presumed Complex IV

>Caitlin, 11 yrs, Severe Autonomic Dysfunction, CIDP, Complex IV

>

>

>

>---------------------------

[Guest guest]

All right Jeannine, If I understand this explanation, then if we have a

membrane defect caused by a nuclear DNA defect it could be affecting the

mitochondria but would be more accurately called an inborn error of

metabolism than specifically a mito disorder. Not being able to properly

process the biotin, B2, and B3, and sucking up 4 times the normal amt of

calcium is definitely an error in being able to metabolize nutrients which

in turns affects our ability to make energy but mainly because of the

hypometabolism and not the mitochondria themselves not being able to make

energy. In other words if they could get the proper nutrients the our

mitochondria may be able to work fine but because of a cell membrane defect

they cannot get what they need to work with to do their job right.

Does this sound like I'm on the right track here? Anyone who has an idea or

comment is welcome to respond. Jeannine just set me to thinking this out

maybe more clearly. I signed up for the IEM list, thank you for the

information. S.

DNA mutation

>

>

>Well an inborn error of metabolism is very much like mito disease, if not a

part of it. What it means is

>that there is something wrong with the ability to metabolize fats, sugars

or proteins into energy and

>transport it where it needs to go. This also defines what mitochondrial

disease is. Mitochondrial

>disease is a disease of energy metabolism and transport.

>

>The DNA is where the problem originates. Sometimes it comes from the

mother or mitochondrial DNA, which

>are found in the mother's eggs before the baby is even conceived. If there

is a defect in mitochondrial

>DNA then when the egg is fertilized and begins to divide the mutation can

cause different organ systems to

>be affected depending on how the cell divides and how many " sick "

mitochondrial are in specific parts of

>the cell.

>

>If the " sick " mitochondria are spread out all over the cell when it divides

and no one cell division gets

>all of them, then there may also be enough healthy mitochondria that what

ever organ system is formed from

>that divided cell may not be symptomatic. But if several " sick " mito end

up in one part of the cell when

>it divides then you end up with more symptoms in that particular organ

system.

>

>Each egg contains the defective mitochondria, so it isn't uncommon to see

several children in the family,

>or a long family history of mitochondrial symptoms.

>

>If the defect is in the nuclear DNA then it isn't as simple. The nuclear

DNA defects affects how the

>specific proteins are formed that go on to form other organ systems and

most especially the enzymes that

>make the respiratory chain, or the Kreb's cycle work. This is where food

that you eat and air that you

>breath are turned into energy or ATP and transported to the rest of the

body so that organ systems can run

>efficiently and so that you have the energy to get through the day.

Muscles need energy to function, and

>so does each organ system. So if you have a nuclear defect that causes you

not to form part of that cycle

>correctly, then you also have a disorder of energy metabolism.

>

>These are two different origins for the same disease. It's just the

genetic part of it. When you get a

>mitochondrial/metabolic evaluation they look for an error of defect in

metabolism and try to get a

>specific diagnosis. In our family, the defect is at complex IV, many

others on the list, have a defect at

>complex I. But the second part of the testing is to see how it got

there - the genetic information. So

>that you will know where it came from and what the risks are for the rest

of your family.

>

>

>> The doctor mentioned mutant DNA to her is that what a inborn error of

metabolism is and does that mean

>> other children will be affected?

>

>the DNA mutation causes the inborn error of metabolism. Without knowing

the exact mutation and being able

>to identify it, it is impossible to tell if other children will be

affected. Even if you identify the

>defect, other children may not be symptomatic. It is a very difficult

issue.

>

>> Is this a mito diagnosis?

>

>Yes, I think many consider this a mitochondrial disease. But it is a very

specific type of mito disease

>and there is still so little known about mitochondrial disease in general.

I was thinking that a friend

>of mine has a child with a similar diagnosis, and I will check with her and

see if she can provide you

>with any further information. Also the IEM list may be of some help too.

It doesn't seem to be as busy

>as the mito lists, but there are more folks with the specific Inborn Errors

of Metabolism and you may also

>be able to get more specific information there, regarding this specific

diagnosis.

>

>Good luck,

>Jeannine, mom to

>Dalton, 20 yrs, ADD, LD, Presumed Complex IV

>Genny, 17 yrs, Severe Autonomic Dysfunction, Presumed Complex IV

>Caitlin, 11 yrs, Severe Autonomic Dysfunction, CIDP, Complex IV

>

>

>

>---------------------------

[Guest guest]

From what I have been told by Di Mauro, De Vivo, Naviaux, and Wallace (in

different conversations with each of them), *some* mitochondrial specialests

when refering to " mitochopndrial disorders " are refering to their genitic

material/origin, i.e. mtDNA. These same specialists do NOT include neuclear

DNA disorders into that catagory due to the fact that the nDNA is

responsable, thus the use of the term " metabolic disorder. "

Some specialists lump mt. DNA and nDNA into the " mitochondrial disorder "

catagory simply if the symptoms affect mitochondrial " function " .

Inborn errors of metabolism is a term used to refer to cases of metabolic

disfunction observed since infantcy or birth, and not " aquired " after birth.

Do I understand this properly?

Lynnie

[Guest guest]

From what I have been told by Di Mauro, De Vivo, Naviaux, and Wallace (in

different conversations with each of them), *some* mitochondrial specialests

when refering to " mitochopndrial disorders " are refering to their genitic

material/origin, i.e. mtDNA. These same specialists do NOT include neuclear

DNA disorders into that catagory due to the fact that the nDNA is

responsable, thus the use of the term " metabolic disorder. "

Some specialists lump mt. DNA and nDNA into the " mitochondrial disorder "

catagory simply if the symptoms affect mitochondrial " function " .

Inborn errors of metabolism is a term used to refer to cases of metabolic

disfunction observed since infantcy or birth, and not " aquired " after birth.

Do I understand this properly?

Lynnie

[Guest guest]

From what I have been told by Di Mauro, De Vivo, Naviaux, and Wallace (in

different conversations with each of them), *some* mitochondrial specialests

when refering to " mitochopndrial disorders " are refering to their genitic

material/origin, i.e. mtDNA. These same specialists do NOT include neuclear

DNA disorders into that catagory due to the fact that the nDNA is

responsable, thus the use of the term " metabolic disorder. "

Some specialists lump mt. DNA and nDNA into the " mitochondrial disorder "

catagory simply if the symptoms affect mitochondrial " function " .

Inborn errors of metabolism is a term used to refer to cases of metabolic

disfunction observed since infantcy or birth, and not " aquired " after birth.

Do I understand this properly?

Lynnie

[Guest guest]

In a message dated 6/26/1999 12:06:52 PM Eastern Daylight Time,

joelinda@... writes:

>

>

> All right Jeannine, If I understand this explanation, then if we have a

> membrane defect caused by a nuclear DNA defect it could be affecting the

> mitochondria but would be more accurately called an inborn error of

> metabolism than specifically a mito disorder.

> Does this sound like I'm on the right track here? Anyone who has an idea or

> comment is welcome to respond.

I've been through some of this because of my own diagnosis, and I presented

almost the same question to the MDA neurologist I see.

My situation is that I have a nuclear defect (MTM) that is not normally

considered a mito. disorder, and yet, according to some research, MTM

sometimes is accompanied by an OXPHOS disorder, which is true in my case. I

have several abnormal Complexes, which I'd have to dig out again to recall

which ones. Four out of the five tested were abnormal, I think. Yet the

mitochondrial DNA is fine...it's all nuclear.

So I asked my neurologist, " So do I have a mitochondrial disorder or not? "

and he said that it really depends on which doctor you ask, because this

whole field is so new, one researcher's definition often will differ from

another's.

the Elder, who has a mito. disorder, or not, or....

[Guest guest]

In a message dated 6/26/1999 5:48:04 PM Eastern Daylight Time,

GOLYNIE@... writes:

> different conversations with each of them), *some* mitochondrial

specialests

> when refering to " mitochopndrial disorders " are refering to their genitic

> material/origin, i.e. mtDNA. These same specialists do NOT include

neuclear

>

> DNA disorders into that catagory due to the fact that the nDNA is

> responsable, thus the use of the term " metabolic disorder. "

> Some specialists lump mt. DNA and nDNA into the " mitochondrial disorder "

> catagory simply if the symptoms affect mitochondrial " function " .

That's exactly how I understood it, too.

the Elder

[Guest guest]

In a message dated 6/26/1999 5:48:04 PM Eastern Daylight Time,

GOLYNIE@... writes:

> different conversations with each of them), *some* mitochondrial

specialests

> when refering to " mitochopndrial disorders " are refering to their genitic

> material/origin, i.e. mtDNA. These same specialists do NOT include

neuclear

>

> DNA disorders into that catagory due to the fact that the nDNA is

> responsable, thus the use of the term " metabolic disorder. "

> Some specialists lump mt. DNA and nDNA into the " mitochondrial disorder "

> catagory simply if the symptoms affect mitochondrial " function " .

That's exactly how I understood it, too.

the Elder

[Guest guest]

Oh , don't take this wrong,but how funny this all is! Life is so very

weird.

And guess what everybody? I have the 2 boys SPECT scans set up for the end

of July at OHSU and we have a legislator working with us for 's sake

and maybe he can help us get help for Connie too. He is so pissed at DSHS

and he cannot believe their behavior any more than we can.

I was also told by a Dr. yest. that he flat doesn't want to work with my

family as he likes his patients to come in with their symptoms and let him

be the Dr. and I come in with too many answers. I was so upset I said so it

is an ego issue we are dealing with here, huh? He turned red faced and said

no, he didn't have time for us (too overwhelming and complicated) & I said

my gosh, you just told me you don't like me doing any of the work which

saves you time and energy and thinking like you just told me you've always

been intrigued with the SPECT testing and here I've presented a case where

having the test is necessary and would be helpful and save time and be safer

than taking shots in the dark medicating little children and you are telling

me no. You don't even make the appt. Your nurse does, how much time does

that take? And you don't interpret it, you just refer and accept the

paperwork back for us and then you don't even have to guess at the proper

medicines! He was pissed but I was a million times more upset. Like I told

him I go in and pretend I'm stupid and the Dr.s can't help us, and I go in

and share my knowledge and research and documentation and ideas and they

hate me so I can't win. I asked him where do you suggest we get help? He was

speechless and stuttered around like a child.

Anyway, the other Dr. (the boys original primary Dr.) made the appts. that

afternoon (yest.) and they are excited to see the results and help the boys.

(I went to the 2nd Dr. because the original Dr. is moving to another office

and is really wrapped up in that problem so I was trying to not bother him

with us until he got moved).

AND, we found the perfect place to move to today where the sun shines and

they have top notch schools, and just everything we love. I didn't want to

come home. I am so excited and hope things work out so we can get some land

and move as quick as humanely possible. It's about 3 hrs away from

here-perfect distance from the rest of the family. I feel like saved by the

bell cause I was at the very end of my rope with everything. S.

Re: DNA mutation

>From: Arrants@...

>

>In a message dated 6/26/1999 12:06:52 PM Eastern Daylight Time,

>joelinda@... writes:

>

>>

>>

>> All right Jeannine, If I understand this explanation, then if we have a

>> membrane defect caused by a nuclear DNA defect it could be affecting the

>> mitochondria but would be more accurately called an inborn error of

>> metabolism than specifically a mito disorder.

>

>> Does this sound like I'm on the right track here? Anyone who has an idea

or

>> comment is welcome to respond.

>

>I've been through some of this because of my own diagnosis, and I presented

>almost the same question to the MDA neurologist I see.

>

>My situation is that I have a nuclear defect (MTM) that is not normally

>considered a mito. disorder, and yet, according to some research, MTM

>sometimes is accompanied by an OXPHOS disorder, which is true in my case. I

>have several abnormal Complexes, which I'd have to dig out again to recall

>which ones. Four out of the five tested were abnormal, I think. Yet the

>mitochondrial DNA is fine...it's all nuclear.

>

>So I asked my neurologist, " So do I have a mitochondrial disorder or not? "

>and he said that it really depends on which doctor you ask, because this

>whole field is so new, one researcher's definition often will differ from

>another's.

>

> the Elder, who has a mito. disorder, or not, or....

>

>---------------------------

[Guest guest]

Oh , don't take this wrong,but how funny this all is! Life is so very

weird.

And guess what everybody? I have the 2 boys SPECT scans set up for the end

of July at OHSU and we have a legislator working with us for 's sake

and maybe he can help us get help for Connie too. He is so pissed at DSHS

and he cannot believe their behavior any more than we can.

I was also told by a Dr. yest. that he flat doesn't want to work with my

family as he likes his patients to come in with their symptoms and let him

be the Dr. and I come in with too many answers. I was so upset I said so it

is an ego issue we are dealing with here, huh? He turned red faced and said

no, he didn't have time for us (too overwhelming and complicated) & I said

my gosh, you just told me you don't like me doing any of the work which

saves you time and energy and thinking like you just told me you've always

been intrigued with the SPECT testing and here I've presented a case where

having the test is necessary and would be helpful and save time and be safer

than taking shots in the dark medicating little children and you are telling

me no. You don't even make the appt. Your nurse does, how much time does

that take? And you don't interpret it, you just refer and accept the

paperwork back for us and then you don't even have to guess at the proper

medicines! He was pissed but I was a million times more upset. Like I told

him I go in and pretend I'm stupid and the Dr.s can't help us, and I go in

and share my knowledge and research and documentation and ideas and they

hate me so I can't win. I asked him where do you suggest we get help? He was

speechless and stuttered around like a child.

Anyway, the other Dr. (the boys original primary Dr.) made the appts. that

afternoon (yest.) and they are excited to see the results and help the boys.

(I went to the 2nd Dr. because the original Dr. is moving to another office

and is really wrapped up in that problem so I was trying to not bother him

with us until he got moved).

AND, we found the perfect place to move to today where the sun shines and

they have top notch schools, and just everything we love. I didn't want to

come home. I am so excited and hope things work out so we can get some land

and move as quick as humanely possible. It's about 3 hrs away from

here-perfect distance from the rest of the family. I feel like saved by the

bell cause I was at the very end of my rope with everything. S.

Re: DNA mutation

>From: Arrants@...

>

>In a message dated 6/26/1999 12:06:52 PM Eastern Daylight Time,

>joelinda@... writes:

>

>>

>>

>> All right Jeannine, If I understand this explanation, then if we have a

>> membrane defect caused by a nuclear DNA defect it could be affecting the

>> mitochondria but would be more accurately called an inborn error of

>> metabolism than specifically a mito disorder.

>

>> Does this sound like I'm on the right track here? Anyone who has an idea

or

>> comment is welcome to respond.

>

>I've been through some of this because of my own diagnosis, and I presented

>almost the same question to the MDA neurologist I see.

>

>My situation is that I have a nuclear defect (MTM) that is not normally

>considered a mito. disorder, and yet, according to some research, MTM

>sometimes is accompanied by an OXPHOS disorder, which is true in my case. I

>have several abnormal Complexes, which I'd have to dig out again to recall

>which ones. Four out of the five tested were abnormal, I think. Yet the

>mitochondrial DNA is fine...it's all nuclear.

>

>So I asked my neurologist, " So do I have a mitochondrial disorder or not? "

>and he said that it really depends on which doctor you ask, because this

>whole field is so new, one researcher's definition often will differ from

>another's.

>

> the Elder, who has a mito. disorder, or not, or....

>

>---------------------------

[Guest guest]

Oh , don't take this wrong,but how funny this all is! Life is so very

weird.

And guess what everybody? I have the 2 boys SPECT scans set up for the end

of July at OHSU and we have a legislator working with us for 's sake

and maybe he can help us get help for Connie too. He is so pissed at DSHS

and he cannot believe their behavior any more than we can.

I was also told by a Dr. yest. that he flat doesn't want to work with my

family as he likes his patients to come in with their symptoms and let him

be the Dr. and I come in with too many answers. I was so upset I said so it

is an ego issue we are dealing with here, huh? He turned red faced and said

no, he didn't have time for us (too overwhelming and complicated) & I said

my gosh, you just told me you don't like me doing any of the work which

saves you time and energy and thinking like you just told me you've always

been intrigued with the SPECT testing and here I've presented a case where

having the test is necessary and would be helpful and save time and be safer

than taking shots in the dark medicating little children and you are telling

me no. You don't even make the appt. Your nurse does, how much time does

that take? And you don't interpret it, you just refer and accept the

paperwork back for us and then you don't even have to guess at the proper

medicines! He was pissed but I was a million times more upset. Like I told

him I go in and pretend I'm stupid and the Dr.s can't help us, and I go in

and share my knowledge and research and documentation and ideas and they

hate me so I can't win. I asked him where do you suggest we get help? He was

speechless and stuttered around like a child.

Anyway, the other Dr. (the boys original primary Dr.) made the appts. that

afternoon (yest.) and they are excited to see the results and help the boys.

(I went to the 2nd Dr. because the original Dr. is moving to another office

and is really wrapped up in that problem so I was trying to not bother him

with us until he got moved).

AND, we found the perfect place to move to today where the sun shines and

they have top notch schools, and just everything we love. I didn't want to

come home. I am so excited and hope things work out so we can get some land

and move as quick as humanely possible. It's about 3 hrs away from

here-perfect distance from the rest of the family. I feel like saved by the

bell cause I was at the very end of my rope with everything. S.

Re: DNA mutation

>From: Arrants@...

>

>In a message dated 6/26/1999 12:06:52 PM Eastern Daylight Time,

>joelinda@... writes:

>

>>

>>

>> All right Jeannine, If I understand this explanation, then if we have a

>> membrane defect caused by a nuclear DNA defect it could be affecting the

>> mitochondria but would be more accurately called an inborn error of

>> metabolism than specifically a mito disorder.

>

>> Does this sound like I'm on the right track here? Anyone who has an idea

or

>> comment is welcome to respond.

>

>I've been through some of this because of my own diagnosis, and I presented

>almost the same question to the MDA neurologist I see.

>

>My situation is that I have a nuclear defect (MTM) that is not normally

>considered a mito. disorder, and yet, according to some research, MTM

>sometimes is accompanied by an OXPHOS disorder, which is true in my case. I

>have several abnormal Complexes, which I'd have to dig out again to recall

>which ones. Four out of the five tested were abnormal, I think. Yet the

>mitochondrial DNA is fine...it's all nuclear.

>

>So I asked my neurologist, " So do I have a mitochondrial disorder or not? "

>and he said that it really depends on which doctor you ask, because this

>whole field is so new, one researcher's definition often will differ from

>another's.

>

> the Elder, who has a mito. disorder, or not, or....

>

>---------------------------

[Guest guest]

But Lynnie, many inborn errors of metabolism are there at birth but it takes

eating and maybe a combination of other factors to make the genetic defect

manifest itself. Like stressful environmental problems also.

This is why they test for some of these things at birth before they even

feed babies like the phenylalanine test. Once they ingest the offending item

they can't process, it can cause permanent brain damage. I think many IEMs

are mild enough it takes a while of ingesting the item(s) to do the damage

and like I said perhaps also needs to have the stress on the say nervous

system or muscular system to manifest damage.

Just thoughts as why some kids seem OK but then start regressing as time

goes by. S.

Re: DNA mutation

>From: GOLYNIE@...

>

>>From what I have been told by Di Mauro, De Vivo, Naviaux, and Wallace (in

>different conversations with each of them), *some* mitochondrial

specialests

>when refering to " mitochopndrial disorders " are refering to their genitic

>material/origin, i.e. mtDNA. These same specialists do NOT include

neuclear

>DNA disorders into that catagory due to the fact that the nDNA is

>responsable, thus the use of the term " metabolic disorder. "

>Some specialists lump mt. DNA and nDNA into the " mitochondrial disorder "

>catagory simply if the symptoms affect mitochondrial " function " .

>

>Inborn errors of metabolism is a term used to refer to cases of metabolic

>disfunction observed since infantcy or birth, and not " aquired " after

birth.

>

>Do I understand this properly?

>

>Lynnie

>

>---------------------------

[Guest guest]

I can see both sides of this coin. S.

Re: DNA mutation

>From: Arrants@...

>

>In a message dated 6/26/1999 5:48:04 PM Eastern Daylight Time,

>GOLYNIE@... writes:

>

>> different conversations with each of them), *some* mitochondrial

>specialests

>> when refering to " mitochopndrial disorders " are refering to their

genitic

>> material/origin, i.e. mtDNA. These same specialists do NOT include

>neuclear

>>

>> DNA disorders into that catagory due to the fact that the nDNA is

>> responsable, thus the use of the term " metabolic disorder. "

>> Some specialists lump mt. DNA and nDNA into the " mitochondrial disorder "

>> catagory simply if the symptoms affect mitochondrial " function " .

>

>That's exactly how I understood it, too.

>

> the Elder

>

>---------------------------

[Guest guest]

,

Again, I think it depends on who you ask. Shoffner and Cohen have

both evalutated our family history as well as some family members, and

we carry a diagnosis of mytochondrial cytopathy, or encephalomyopathy

with a defect at complex IV. It has been suggeted that we possibly

have a nuclear defect that impacts the formation of complex IV. As

yet there has been no mtDNA defect found although the testing is still

ongoing.

No one has ever suggested a diagnosis of Inborn Error of Metabolism

for our family, and Caitlin symptoms have been observed since

birth....

Jeannine

[Guest guest]

Thank you Jeannine for taking the time to explain and share. With each

person's comments the picture gets a bit more clear although I know in

reality the whole thing is quite a muddy mess until we humans learn more.

S.

Re: DNA mutation

>

>

>,

>

>Again, I think it depends on who you ask. Shoffner and Cohen have

>both evalutated our family history as well as some family members, and

>we carry a diagnosis of mytochondrial cytopathy, or encephalomyopathy

>with a defect at complex IV. It has been suggeted that we possibly

>have a nuclear defect that impacts the formation of complex IV. As

>yet there has been no mtDNA defect found although the testing is still

>ongoing.

>

>No one has ever suggested a diagnosis of Inborn Error of Metabolism

>for our family, and Caitlin symptoms have been observed since

>birth....

>

>Jeannine

>

>

>---------------------------

[Guest guest]

In a message dated 99-06-27 01:33:57 EDT, you write:

<< AND, we found the perfect place to move to today where the sun shines and

they have top notch schools, and just everything we love. I didn't want to

come home. I am so excited and hope things work out so we can get some land

and move as quick as humanely possible. It's about 3 hrs away from

here-perfect distance from the rest of the family. I feel like saved by the

bell cause I was at the very end of my rope with everything. S. >>

Dear :

This is such good news! How great to find the perfect place. Sometimes it's

good to be a ways from ones family. Absence DOES make the heart grow fonder.

Lynnie

[Guest guest]

In a message dated 99-06-27 01:33:57 EDT, you write:

<< AND, we found the perfect place to move to today where the sun shines and

they have top notch schools, and just everything we love. I didn't want to

come home. I am so excited and hope things work out so we can get some land

and move as quick as humanely possible. It's about 3 hrs away from

here-perfect distance from the rest of the family. I feel like saved by the

bell cause I was at the very end of my rope with everything. S. >>

Dear :

This is such good news! How great to find the perfect place. Sometimes it's

good to be a ways from ones family. Absence DOES make the heart grow fonder.

Lynnie

[Guest guest]

, where is this paradise? I haven't been keeping up with each post.

Especially when the Subject headings don't change when the thread does!

LOL!

We're working on moving too, but staying in the same town, as we have the

teacher picked out for the next few years! Barring anything weird happening,

like us winning the lottery... But, Long Beach has ritzy areas, too!

Bloom wherever you can get planted!

Love, Kate, , and Staci with DNA mutation, complex II.

<

<

<< AND, we found the perfect place to move to today where the sun shines and

they have top notch schools, and just everything we love. I didn't want to

come home. I am so excited and hope things work out so we can get some land

and move as quick as humanely possible. It's about 3 hrs away from

here-perfect distance from the rest of the family. I feel like saved by the

bell cause I was at the very end of my rope with everything. S. >>

>>

[Guest guest]

, where is this paradise? I haven't been keeping up with each post.

Especially when the Subject headings don't change when the thread does!

LOL!

We're working on moving too, but staying in the same town, as we have the

teacher picked out for the next few years! Barring anything weird happening,

like us winning the lottery... But, Long Beach has ritzy areas, too!

Bloom wherever you can get planted!

Love, Kate, , and Staci with DNA mutation, complex II.

<

<

<< AND, we found the perfect place to move to today where the sun shines and

they have top notch schools, and just everything we love. I didn't want to

come home. I am so excited and hope things work out so we can get some land

and move as quick as humanely possible. It's about 3 hrs away from

here-perfect distance from the rest of the family. I feel like saved by the

bell cause I was at the very end of my rope with everything. S. >>

>>

[Guest guest]

Hi, I am only on A right now and will surely be enlighted as I read on, but

this came up today and between my 3 year old nephew visiting, my mom

diagnosed with return of breast cancer and my daughter , I had trouble

hearing my son's Dr. She was trying to give me this same explanation.HOw

does nuclear mitochondria differ from regular mitochondria in the cell.

Looks like we got Bart into a new research program. Dr. DiMauro in NYC

will pay Dr. here to draw blood and fed ex to NYC. He does have funding

for looking at the link between mitochondria and autism and high lactate

acid levels got him in. Dr. is going to draw blood herself. Says research

will not rule out pyruvate dehydrongenase as cause of autism, however as we

await clearance from Cleveland to whenever they can do the darn test this

will, now that I finally got approval from a new insurance. Anyway, she

mentioned sequencing and this is another way to look at this link and we

might as well take part of the study. But what is different about looking

at the nucleus of the cell. Thx. Looking forwarrd to read on if I can

concentrate.....because she also told me my mom could go very fast with her

new cancer diagnosis. Boo hoo...... Looks like I'll be spending alot of

time at home this summer.... but how without services for Bart. Thx for

listening. Kathy Foley

----------

> From: Arrants@...

> To: Mitoonelist

> Subject: Re: DNA mutation

> Date: Saturday, June 26, 1999 5:01 PM

>

> From: Arrants@...

>

> In a message dated 6/26/1999 12:06:52 PM Eastern Daylight Time,

> joelinda@... writes:

>

> >

> >

> > All right Jeannine, If I understand this explanation, then if we have

a

> > membrane defect caused by a nuclear DNA defect it could be affecting

the

> > mitochondria but would be more accurately called an inborn error of

> > metabolism than specifically a mito disorder.

>

> > Does this sound like I'm on the right track here? Anyone who has an

idea or

> > comment is welcome to respond.

>

> I've been through some of this because of my own diagnosis, and I

presented

> almost the same question to the MDA neurologist I see.

>

> My situation is that I have a nuclear defect (MTM) that is not normally

> considered a mito. disorder, and yet, according to some research, MTM

> sometimes is accompanied by an OXPHOS disorder, which is true in my case.

I

> have several abnormal Complexes, which I'd have to dig out again to

recall

> which ones. Four out of the five tested were abnormal, I think. Yet the

> mitochondrial DNA is fine...it's all nuclear.

>

> So I asked my neurologist, " So do I have a mitochondrial disorder or

not? "

> and he said that it really depends on which doctor you ask, because this

> whole field is so new, one researcher's definition often will differ from

> another's.

>

> the Elder, who has a mito. disorder, or not, or....

>

> ---------------------------

[Guest guest]

Kathy, I am so sorry for your mom and your own pain. I am glad someone is

looking at the autism/mito connection. I swear tonite if someone somewhere

does not find something to help us help these kids we're all going to go

under. LInda S.

Re: DNA mutation

>> Date: Saturday, June 26, 1999 5:01 PM

>>

>> From: Arrants@...

>>

>> In a message dated 6/26/1999 12:06:52 PM Eastern Daylight Time,

>> joelinda@... writes:

>>

>> >

>> >

>> > All right Jeannine, If I understand this explanation, then if we have

>a

>> > membrane defect caused by a nuclear DNA defect it could be affecting

>the

>> > mitochondria but would be more accurately called an inborn error of

>> > metabolism than specifically a mito disorder.

>>

>> > Does this sound like I'm on the right track here? Anyone who has an

>idea or

>> > comment is welcome to respond.

>>

>> I've been through some of this because of my own diagnosis, and I

>presented

>> almost the same question to the MDA neurologist I see.

>>

>> My situation is that I have a nuclear defect (MTM) that is not normally

>> considered a mito. disorder, and yet, according to some research, MTM

>> sometimes is accompanied by an OXPHOS disorder, which is true in my case.

>I

>> have several abnormal Complexes, which I'd have to dig out again to

>recall

>> which ones. Four out of the five tested were abnormal, I think. Yet the

>> mitochondrial DNA is fine...it's all nuclear.

>>

>> So I asked my neurologist, " So do I have a mitochondrial disorder or

>not? "

>> and he said that it really depends on which doctor you ask, because this

>> whole field is so new, one researcher's definition often will differ from

>

>> another's.

>>

>> the Elder, who has a mito. disorder, or not, or....

>>

>> ---------------------------

[Guest guest]

Kathy, I am so sorry for your mom and your own pain. I am glad someone is

looking at the autism/mito connection. I swear tonite if someone somewhere

does not find something to help us help these kids we're all going to go

under. LInda S.

Re: DNA mutation

>> Date: Saturday, June 26, 1999 5:01 PM

>>

>> From: Arrants@...

>>

>> In a message dated 6/26/1999 12:06:52 PM Eastern Daylight Time,

>> joelinda@... writes:

>>

>> >

>> >

>> > All right Jeannine, If I understand this explanation, then if we have

>a

>> > membrane defect caused by a nuclear DNA defect it could be affecting

>the

>> > mitochondria but would be more accurately called an inborn error of

>> > metabolism than specifically a mito disorder.

>>

>> > Does this sound like I'm on the right track here? Anyone who has an

>idea or

>> > comment is welcome to respond.

>>

>> I've been through some of this because of my own diagnosis, and I

>presented

>> almost the same question to the MDA neurologist I see.

>>

>> My situation is that I have a nuclear defect (MTM) that is not normally

>> considered a mito. disorder, and yet, according to some research, MTM

>> sometimes is accompanied by an OXPHOS disorder, which is true in my case.

>I

>> have several abnormal Complexes, which I'd have to dig out again to

>recall

>> which ones. Four out of the five tested were abnormal, I think. Yet the

>> mitochondrial DNA is fine...it's all nuclear.

>>

>> So I asked my neurologist, " So do I have a mitochondrial disorder or

>not? "

>> and he said that it really depends on which doctor you ask, because this

>> whole field is so new, one researcher's definition often will differ from

>

>> another's.

>>

>> the Elder, who has a mito. disorder, or not, or....

>>

>> ---------------------------