Guest guest Posted June 21, 2005 Report Share Posted June 21, 2005 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 Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 21, 2005 Report Share Posted June 21, 2005 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 Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 21, 2005 Report Share Posted June 21, 2005 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 Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 21, 2005 Report Share Posted June 21, 2005 Thanks for sharing this information, Joanne. I take it that an ANT defect would originate from mtDNA, not nuclear DNA. But perhaps this is not precisely known either, since many mitochondrial proteins are encoded in nuclear DNA. Barbara _____ From: [mailto: ] On Behalf Of Joanne Kocourek Sent: Tuesday, June 21, 2005 9:52 AM To: Subject: RE: ANT 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 Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 21, 2005 Report Share Posted June 21, 2005 Just a side note - if it's not being too nosy, how long have you been waiting for genetic results from Dr. Shoffner's office? I've been waiting more than 2.5 years... Take care, RH > Sorry, what is ANT? > > Thanks, > RH > > > > > > Joanne Kocourek (mom to , lies, and ) > visit us at: http://www.caringbridge.org/il/annakris > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 21, 2005 Report Share Posted June 21, 2005 It took almost 24 months to receive the initial COmplex I genetics from a biopsy done, in Atlanta, 7 years ago. We were told it would take 2-4 YEARS before the entire genome would eb reported. Mayo and Cleveland have not been able to learn anything in regards to if any portion has been completed yet. --- ohgminion rakshasis@...> wrote: > Just a side note - if it's not being too nosy, how > long have you been > waiting for genetic results from Dr. Shoffner's > office? I've been > waiting more than 2.5 years... > > Take care, > RH > > > > Sorry, what is ANT? > > > > Thanks, > > RH > > > > > > > > > > > > Joanne Kocourek (mom to , lies, and > ) > > visit us at: > http://www.caringbridge.org/il/annakris > > > > [Non-text portions of this message have been > removed] > > > > > > > > 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. > > > > > > > > > > > > _____ > > > > Quote Link to comment Share on other sites More sharing options...
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