Re: 2nd muscle bx: to be read at Columbia-Presbyterian, NYC

[Guest guest]

I guess I'm not sure what you mean by " read " the muscle biopsy. I

don't have " ragged red fibers " and my mitochondria don't look

abnormal, yet I have a severe Complex I defect from lab testing of

the fresh muscle biopsy. You might want to ask if they are doing " ox

phos " (oxidative phosphorylation) chain testing on your muscle biopsy.

I had a muscle biopsy with local, and they tried but failed a spinal

tap right afterwards.

Take care,

RH

> Dear RH,

> Sorry for the delay in seeing this post. Was in NYC on Tuesday, and

then

> I have been having migraine, vomiting, gastroparesis, etc. What a

> week....

>

> Yes, I am having my second muscle bx, done by a plastic surgeon; he

will

> then send it on dry ice to Columbia, to be read by Dr. Hays at

Columbia.

> He is a close professional colleague of my neuro, and he was one of

the

> pathologists who read the first bx, on the quadriceps.

>

> Since I have a sizable lipoma right next to the deltoid muscle in my

> shoulder, the surgeon will also excise this, as well as an odd red

> lesion near my clavicle.

> Hope I am up to all of this, with a local.

> Ah, more of the joys of mito....

> Take care.

>

>

>

>

>

[Guest guest]

Dear RH,

By using the word " read, " regarding my upcoming biopsy, I mean

" interpret. "

My first showed a vacuole, a ragged red fiber, and deficiencies in

Complexes I, III and IV, and of citrate synthase. I presume that's what

you meant by the ox phos cycle.

At that time, in 1999, they could not nail a particular kind of mito,

although Dr. Hirano said he thought I have a mito encephalomyopathy.

Having just read Dr. Cohen's answers about mito on the Sept. MDA chat, I

believe that he feels there are many more mito mutations than originally

thought when he entered the field.

It is my understanding that those of us here on the mito lists who have

been dx'd with mito, have never been given a specific dx, like MELAS or

MERFF or NARP, etc. With those who have, the specific dx seems to come

only after a close relative has died of mito.

When several of the men on these lists have been dx'd with mito in early

middle age--and one has died--their mito profiles and progressions seem

to me to be more similar than those dx'd in childhood, or for women

dx'd. This is just my impression.

I have a hunch that some mito is more gender-specific.

Take care!

S.

[Guest guest]

I had fresh muscle biopsy testing in 2002, and they identified a

complete absence of Complex I activity. I'm not sure why they are

repeating the test for you if they did find deficiencies in several

complexes. Maybe looking for other issues, like fatty acid

metabolism? I don't plan to have another muscle biopsy, and I think

they even kept some of the muscle " just in case " they come up with

some new testing.

My diagnosis is " mitochondrial encephalomyopathy, MELAS-phenotype,

unknown genotype " , which means my presentation is MELAS, but I don't

have any of the few known MELAS genetic markers. I have a paternal

uncle with very similar symptoms - his onset was age 70, I got sick

at age 25.

Interesting article on the subject of not knowing a specific defect:

===============================================

A novel mitochondrial tRNAPhe mutation causes MERRF syndrome.

Mancuso M; Filosto M; Mootha V K; Rocchi A; Pistolesi S; Murri L;

DiMauro S; Siciliano G Department of Neurology, Columbia

University College of Physicians and Surgeons, New York, NY 10032,

USA Neurology (2004 Jun 8), 62(11), 2119-21. Journal code:

0401060. ISSN:1526-632X. Journal; Article; (JOURNAL ARTICLE)

written in English. PubMed ID 15184630 AN 2004284474 In-process

for MEDLINE (Copyright 2004 U.S. National Library of Medicine on

SciFinder ®)

Abstract

A woman with typical features of myoclonic epilepsy with ragged red

fibers (MERRF) had a novel heteroplasmic mutation (G611A) in the

mitochondrial DNA tRNA phenylalanine gene. The mutation was

heteroplasmic (91%) in muscle but undetectable in accessible tissues

from the patient and her maternal relatives. Single-fiber PCR

analysis showed that the proportion of mutant genomes was higher in

cytochrome c oxidase (COX)-negative ragged red fibers (RRFs) than in

COX-positive non-RRFs. This report shows that typical MERRF syndrome

is not always associated with tRNA lysine mutations.

===============================================

I was told that whether or not I have MELAS exactly, I would be

treated the same way, based on my symptoms and what the lab tests

showed. The basic thought is:

1) Check out systems with problems (for me, eyes, muscles,

digestive).

2) Get a baseline for systems without problems yet (for me, heart,

ears)

3) Treat by going down the list of the " mito cocktail " . Starts with

CoQ10, and there are about 15 on Dr. Shoffner's list.

And, it does seem that men are worse affected than women, although it

is proven that women are " stronger " than men when it comes to

illness, probably to make sure people have kids. If we were just

dealing with mtDNA, it would be easier to figure out the genetic

distributions, but there are nDNA defects as well (mine is probably

nDNA based on the family pattern).

Maybe we just all have " lactate-pyruvate imbalance " LOL. Just heard

a discussion on changing " impotence " to " erectile dysfunction " for

marketing purposes, we need to get a better term to market mito.

Take care,

RH

> Dear RH,

> By using the word " read, " regarding my upcoming biopsy, I mean

> " interpret. "

> My first showed a vacuole, a ragged red fiber, and deficiencies in

> Complexes I, III and IV, and of citrate synthase. I presume that's

what

> you meant by the ox phos cycle.

> At that time, in 1999, they could not nail a particular kind of

mito,

> although Dr. Hirano said he thought I have a mito encephalomyopathy.

> Having just read Dr. Cohen's answers about mito on the Sept. MDA

chat, I

> believe that he feels there are many more mito mutations than

originally

> thought when he entered the field.

> It is my understanding that those of us here on the mito lists who

have

> been dx'd with mito, have never been given a specific dx, like

MELAS or

> MERFF or NARP, etc. With those who have, the specific dx seems to

come

> only after a close relative has died of mito.

>

> When several of the men on these lists have been dx'd with mito in

early

> middle age--and one has died--their mito profiles and progressions

seem

> to me to be more similar than those dx'd in childhood, or for women

> dx'd. This is just my impression.

> I have a hunch that some mito is more gender-specific.

> Take care!

> S.

[Guest guest]

The names such as MELAS, etc. are only names for a cluster of symptoms.

Unless a specific known mutation is found, it is just used for convenience.

My opinion is that it is more important to know what isn't working properly

instead of having a " name " for it. Even those with the same mutation or

defect can have very different symptoms (even in the same family)

laurie

> From: BDS31@...

> Reply-To:

> Date: Mon, 11 Oct 2004 14:51:27 -0400

> To:

> Subject: Re: Re: 2nd muscle bx: to be read at Columbia-Presbyterian,

> NYC

>

> Dear RH,

> By using the word " read, " regarding my upcoming biopsy, I mean

> " interpret. "

> My first showed a vacuole, a ragged red fiber, and deficiencies in

> Complexes I, III and IV, and of citrate synthase. I presume that's what

> you meant by the ox phos cycle.

> At that time, in 1999, they could not nail a particular kind of mito,

> although Dr. Hirano said he thought I have a mito encephalomyopathy.

> Having just read Dr. Cohen's answers about mito on the Sept. MDA chat, I

> believe that he feels there are many more mito mutations than originally

> thought when he entered the field.

> It is my understanding that those of us here on the mito lists who have

> been dx'd with mito, have never been given a specific dx, like MELAS or

> MERFF or NARP, etc. With those who have, the specific dx seems to come

> only after a close relative has died of mito.

>

> When several of the men on these lists have been dx'd with mito in early

> middle age--and one has died--their mito profiles and progressions seem

> to me to be more similar than those dx'd in childhood, or for women

> dx'd. This is just my impression.

> I have a hunch that some mito is more gender-specific.

> Take care!

> S.

>

>

>

> Medical advice, information, opinions, data and statements contained herein

> are not necessarily those of the list moderators. The author of this e mail is

> entirely responsible for its content. List members are reminded of their

> responsibility to evaluate the content of the postings and consult with their

> physicians regarding changes in their own treatment.

>

> Personal attacks are not permitted on the list and anyone who sends one is

> automatically moderated or removed depending on the severity of the attack.

>

>

>

>

[Guest guest]

I agree 100%, Laurie. First, it is important to know which metabolic

pathways are impaired (and thus causing the symptoms) and then the

next most useful piece of information is the specific mutation that

is causing the impaired pathways. Unfortunately, mutation

identification is rare for most mito patients right now. We will

just have to wait until technology catches up, meaning more

mutations are identified and mutation screening becomes less

expensive and more available to more patients. I feel very fortunate

to have the mutation for one of my defects identified, but I expect

I'll be waiting a very long time for the mito transport defect

mutation to be found, given the infancy of mito transport science.

Barbara

>

>

> The names such as MELAS, etc. are only names for a cluster of

symptoms.

> Unless a specific known mutation is found, it is just used for

convenience.

> My opinion is that it is more important to know what isn't working

properly

> instead of having a " name " for it. Even those with the same

mutation or

> defect can have very different symptoms (even in the same family)

>

> laurie

>

> > From: BDS31@w...

> > Reply-To:

> > Date: Mon, 11 Oct 2004 14:51:27 -0400

> > To:

> > Subject: Re: Re: 2nd muscle bx: to be read at Columbia-

Presbyterian,

> > NYC

> >

> > Dear RH,

> > By using the word " read, " regarding my upcoming biopsy, I mean

> > " interpret. "

> > My first showed a vacuole, a ragged red fiber, and deficiencies

in

> > Complexes I, III and IV, and of citrate synthase. I presume

that's what

> > you meant by the ox phos cycle.

> > At that time, in 1999, they could not nail a particular kind of

mito,

> > although Dr. Hirano said he thought I have a mito

encephalomyopathy.

> > Having just read Dr. Cohen's answers about mito on the Sept. MDA

chat, I

> > believe that he feels there are many more mito mutations than

originally

> > thought when he entered the field.

> > It is my understanding that those of us here on the mito lists

who have

> > been dx'd with mito, have never been given a specific dx, like

MELAS or

> > MERFF or NARP, etc. With those who have, the specific dx seems

to come

> > only after a close relative has died of mito.

> >

> > When several of the men on these lists have been dx'd with mito

in early

> > middle age--and one has died--their mito profiles and

progressions seem

> > to me to be more similar than those dx'd in childhood, or for

women

> > dx'd. This is just my impression.

> > I have a hunch that some mito is more gender-specific.

> > Take care!

> > S.

> >

> >

> >

> > Medical advice, information, opinions, data and statements

contained herein

> > are not necessarily those of the list moderators. The author of

this e mail is

> > entirely responsible for its content. List members are reminded

of their

> > responsibility to evaluate the content of the postings and

consult with their

> > physicians regarding changes in their own treatment.

> >

> > Personal attacks are not permitted on the list and anyone who

sends one is

> > automatically moderated or removed depending on the severity of

the attack.

> >

> >

> >

> >

[Guest guest]

I agree 100%, Laurie. First, it is important to know which metabolic

pathways are impaired (and thus causing the symptoms) and then the

next most useful piece of information is the specific mutation that

is causing the impaired pathways. Unfortunately, mutation

identification is rare for most mito patients right now. We will

just have to wait until technology catches up, meaning more

mutations are identified and mutation screening becomes less

expensive and more available to more patients. I feel very fortunate

to have the mutation for one of my defects identified, but I expect

I'll be waiting a very long time for the mito transport defect

mutation to be found, given the infancy of mito transport science.

Barbara

>

>

> The names such as MELAS, etc. are only names for a cluster of

symptoms.

> Unless a specific known mutation is found, it is just used for

convenience.

> My opinion is that it is more important to know what isn't working

properly

> instead of having a " name " for it. Even those with the same

mutation or

> defect can have very different symptoms (even in the same family)

>

> laurie

>

> > From: BDS31@w...

> > Reply-To:

> > Date: Mon, 11 Oct 2004 14:51:27 -0400

> > To:

> > Subject: Re: Re: 2nd muscle bx: to be read at Columbia-

Presbyterian,

> > NYC

> >

> > Dear RH,

> > By using the word " read, " regarding my upcoming biopsy, I mean

> > " interpret. "

> > My first showed a vacuole, a ragged red fiber, and deficiencies

in

> > Complexes I, III and IV, and of citrate synthase. I presume

that's what

> > you meant by the ox phos cycle.

> > At that time, in 1999, they could not nail a particular kind of

mito,

> > although Dr. Hirano said he thought I have a mito

encephalomyopathy.

> > Having just read Dr. Cohen's answers about mito on the Sept. MDA

chat, I

> > believe that he feels there are many more mito mutations than

originally

> > thought when he entered the field.

> > It is my understanding that those of us here on the mito lists

who have

> > been dx'd with mito, have never been given a specific dx, like

MELAS or

> > MERFF or NARP, etc. With those who have, the specific dx seems

to come

> > only after a close relative has died of mito.

> >

> > When several of the men on these lists have been dx'd with mito

in early

> > middle age--and one has died--their mito profiles and

progressions seem

> > to me to be more similar than those dx'd in childhood, or for

women

> > dx'd. This is just my impression.

> > I have a hunch that some mito is more gender-specific.

> > Take care!

> > S.

> >

> >

> >

> > Medical advice, information, opinions, data and statements

contained herein

> > are not necessarily those of the list moderators. The author of

this e mail is

> > entirely responsible for its content. List members are reminded

of their

> > responsibility to evaluate the content of the postings and

consult with their

> > physicians regarding changes in their own treatment.

> >

> > Personal attacks are not permitted on the list and anyone who

sends one is

> > automatically moderated or removed depending on the severity of

the attack.

> >

> >

> >

> >

[Guest guest]

http://jmg.bmjjournals.com/cgi/content/full/36/6/425#T2

This is an old article about Mito, from the Uk..probably more recent

ones about.

Gillian

> >

> >

> > The names such as MELAS, etc. are only names for a cluster of

> symptoms.

> > Unless a specific known mutation is found, it is just used for

> convenience.

> > My opinion is that it is more important to know what isn't

working

> properly

> > instead of having a " name " for it. Even those with the same

> mutation or

> > defect can have very different symptoms (even in the same family)

> >

> > laurie

> >

> > > From: BDS31@w...

> > > Reply-To:

> > > Date: Mon, 11 Oct 2004 14:51:27 -0400

> > > To:

> > > Subject: Re: Re: 2nd muscle bx: to be read at

Columbia-

> Presbyterian,

> > > NYC

> > >

> > > Dear RH,

> > > By using the word " read, " regarding my upcoming biopsy, I mean

> > > " interpret. "

> > > My first showed a vacuole, a ragged red fiber, and

deficiencies

> in

> > > Complexes I, III and IV, and of citrate synthase. I presume

> that's what

> > > you meant by the ox phos cycle.

> > > At that time, in 1999, they could not nail a particular kind

of

> mito,

> > > although Dr. Hirano said he thought I have a mito

> encephalomyopathy.

> > > Having just read Dr. Cohen's answers about mito on the Sept.

MDA

> chat, I

> > > believe that he feels there are many more mito mutations than

> originally

> > > thought when he entered the field.

> > > It is my understanding that those of us here on the mito

lists

> who have

> > > been dx'd with mito, have never been given a specific dx, like

> MELAS or

> > > MERFF or NARP, etc. With those who have, the specific dx seems

> to come

> > > only after a close relative has died of mito.

> > >

> > > When several of the men on these lists have been dx'd with

mito

> in early

> > > middle age--and one has died--their mito profiles and

> progressions seem

> > > to me to be more similar than those dx'd in childhood, or for

> women

> > > dx'd. This is just my impression.

> > > I have a hunch that some mito is more gender-specific.

> > > Take care!

> > > S.

> > >

> > >

> > >

> > > Medical advice, information, opinions, data and statements

> contained herein

> > > are not necessarily those of the list moderators. The author

of

> this e mail is

> > > entirely responsible for its content. List members are

reminded

> of their

> > > responsibility to evaluate the content of the postings and

> consult with their

> > > physicians regarding changes in their own treatment.

> > >

> > > Personal attacks are not permitted on the list and anyone who

> sends one is

> > > automatically moderated or removed depending on the severity

of

> the attack.

> > >

> > >

> > >

> > >