RE: ANT

[Guest guest]

Dr. Hoppel (Cleveland CIDDM) did the ANT diagnosis. He was so surprised that he

actually has rechecked the study at least three times. It was been a positive

study each time. Dr. Wallace is the ANT expert in the US. So given the girls

also have identified defects in Complex I, III and IV, I decided to discuss this

atypical mix with him at the conference. (He was very approachable). He said

that, from his perspective, this mix is unusual and is likely the result of

severely abnormal dysfunction both within the mitochondria and across the inner

mitochondrial membrane. He is positive that in my girls their base defect lies

within mtDNA. Dr. Shoffner is doing an evaluation of their entire mitochondrial

genone and, to date, has not identified any " known " mutations or deletions, etc.

One curious comment/questions he posed was, " Your daughter's are significantly

affected, aren't they? " How did he know??? Funny, they look " fine " but

medically are quite compromised with major organ

system involvement.

Barbara Seaman wheatchild@...> wrote:Joanne, Do you know if there

is any genetic connection between the two

defects your daughter has? In other words, is it possible that the ANT

defect is secondarily causing the deficiencies found in the respiratory

chain or are there two separate mutations, one for each defect? Or has this

even been defined? I ask because I also have two mitochondrial defects,

though different from your daughter's. You are the only other person I can

remember talking about two defects in one patient, so I am interested and

curious. Do you mind sharing who did the ANT defect diagnosis?

Thanks.

Barbara

_____

From: [mailto: ] On Behalf

Of Joanne Kocourek

Sent: Tuesday, June 21, 2005 9:11 AM

To:

Subject: Re: ANT

Adenine nucleotide translocators

General characteristics

Most abundant mitochondrial proteins

Integral components of inner mitochondrial membrane

Facilitate exchange of ADP and ATP between cytosol & mitochondria

ohgminion rakshasis@...> wrote:

Sorry, what is ANT?

Thanks,

RH

Joanne Kocourek (mom to , lies, and )

visit us at: http://www.caringbridge.org/il/annakris