RE: looking over my biopsy results-------any ideas here?

December 30, 2004

All the other cases of Complex II/III I have heard of or complex III have

all been with a child affected but not the parent or a adult affected but not

the children which is what I have been told is what is expected because they

say it is autosomal recessive. however this can not be the case for you and i

.

I believe it is nuclear but autosomal dominant, however that is just my

opinion.

December 30, 2004

Barbara,

from what I have read so far a patient that has complex I/III and II/III

most likely has a defect in COQ10.

Just a thought

December 30, 2004

B, I am going to go ahead and request mine be checked however I wonder since

my I/III is good maybe it is not COQ10 but it is always better tested than

not I think so this week when I see my neuro I am going to ask him to call her

and see if we can do it.

I want him to ask her also if she thinks it would be worth it to run any DNA

testing. She has my daiughters muscle also.

you never know

karen

December 30, 2004

, all I can say is that I too am deficient in II/III but also in

all other complexes. My defect is thought to be in mitochondrial transport,

specifically in one of the heat shock proteins, which then reduces all

mitochondrial enzymes. The transport defect is in nDNA, not mtDNA, but

secondarily reduces all mito enzymes, regardless of whether they are nuclear

encoded or mt encoded. There is another patient in Adult Mito whose child

has a deficiency in II/III as well as I and III. She was diagnosed by

Shoffner and also has questions about II/III which have not been answered.

Barbara

_____

From: mitomomtoo

Sent: Thursday, December 30, 2004 7:25 AM

To:

Subject: looking over my biopsy results-------any ideas here?

I have a question to ask of all the " experts " here on the list.

and I have spoken frequesntly about having Mtdna defects and being

deficient in Complexes II-III. We have both been told that this is

very unusual because Complex II is entirely nuclear. Complex III has

only 1 unit that is MTdna related. Both Dr Cohen, my doc, and

Dr. Navuix, her doc, have said this is quite unusual. My son

who is now 6 and was biopsied first at CCF when he was 11 months.His

biopsy was the first in our family to show this defect. My biopsy

showed deficiencies as well and " RARE FOCI OF MILD CHRONIC

INFLAMMATION " . Do any of you know exactly what this means. Dr Cohen

explains " that the pathology is not entirely normal " but doesn't say

much more about what could be going on. Given my lactic acidosis in

my CSF, family history and clinical and labratory data, he is going

ahead with the Mito Diagnosis. He says he doesn't know what to make

of the inflammation but he has seen this in previous Mito patients.

Any ideas or comments for me? Have any of you had a similar biopsy

report?

Hugs,

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.

December 30, 2004