Guest guest Posted June 27, 2005 Report Share Posted June 27, 2005 A skin biopsy can test for all the complexes except Complex 1 deficiency. You would have to have a muscle biopsy to check your complex 1 activity. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 27, 2005 Report Share Posted June 27, 2005 In a message dated 6/27/2005 10:57:19 AM Eastern Standard Time, wheatchild@... writes: Actually, I believe all the inborn errors in fat metabolism (mitochondrial beta oxidation) can be diagnosed with a skin biopsy, assuming the right person is doing the assays. J. PhD in Texas is the fibroblast guru. Fibroblasts can be shipped, so there is no need to go to Texas. Dr is at The Children's Hospital of Philadelphia now. I think he moved there last fall, so his lab is there now, as well. Dr Enns at Stanford in CA is also doing testing with skin fibroblasts by looking at the complexes in a new way...something about looking at or using antibodies which has never been done before. I didn't really understand it, but it sounds really interesting. Malisa Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 27, 2005 Report Share Posted June 27, 2005 In a message dated 6/27/2005 10:57:19 AM Eastern Standard Time, wheatchild@... writes: Actually, I believe all the inborn errors in fat metabolism (mitochondrial beta oxidation) can be diagnosed with a skin biopsy, assuming the right person is doing the assays. J. PhD in Texas is the fibroblast guru. Fibroblasts can be shipped, so there is no need to go to Texas. Dr is at The Children's Hospital of Philadelphia now. I think he moved there last fall, so his lab is there now, as well. Dr Enns at Stanford in CA is also doing testing with skin fibroblasts by looking at the complexes in a new way...something about looking at or using antibodies which has never been done before. I didn't really understand it, but it sounds really interesting. Malisa Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 27, 2005 Report Share Posted June 27, 2005 As I understand it, a skin biopsy is useful for some mito disorders, but not others. I haven't read the medical literature on this recently, but five years ago, I believe the consensus on mitochondrial respiratory chain disorders was that while complex II deficiencies are reliably expressed in cultured skin fibroblasts, deficiencies in complex I, III and IV may not show up in fibroblasts. I don't know whether this position has changed in the last few years, but I suspect not. For mitochondrial respiratory chain disorders (OXPHOS), the preferred methods of diagnosis are either by identifying the genetic defect via genetic testing or by identifying deficiencies in one of the complexes via muscle tissue. However, other kinds of mito disorders can usually be diagnosed in cultured skin fibroblasts. CPT II deficiency is one. Actually, I believe all the inborn errors in fat metabolism (mitochondrial beta oxidation) can be diagnosed with a skin biopsy, assuming the right person is doing the assays. J. PhD in Texas is the fibroblast guru. Fibroblasts can be shipped, so there is no need to go to Texas. As I recall, at least one former member of this group, Beth, had a complex II deficiency diagnosed by skin biopsy. There may be others? The reason Complex II can be diagnosed this way is that all the enzymes in complex II are encoded in nuclear DNA, not mitochondrial DNA. The enzymes in I, III and IV are a mixed bag---some are nDNA encoded, others are mtDNA encoded. In those cases, its more difficult to confirm diagnosis by skin biopsy. That is my understanding, at least. If anyone knows differently, please correct me. I've not followed this issue recently. Barbara _____ From: [mailto: ] On Behalf Of klaga5 Sent: Monday, June 27, 2005 9:02 AM To: Subject: skin or muscle biopsy Have many of you been diagnosed by having a skin biopsy? Is it a good alternative, or just a small chance of diagnosis? I'd love to avoid another muscle biopsy, but want a diagnosis more. 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...
Guest guest Posted June 27, 2005 Report Share Posted June 27, 2005 Thanks, . In that case, a skin biopsy would be a good option. B _____ From: [mailto: ] On Behalf Of LILQT4U1984@... Sent: Monday, June 27, 2005 9:28 AM To: Subject: Re: skin or muscle biopsy A skin biopsy can test for all the complexes except Complex 1 deficiency. You would have to have a muscle biopsy to check your complex 1 activity. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 27, 2005 Report Share Posted June 27, 2005 Thanks, . In that case, a skin biopsy would be a good option. B _____ From: [mailto: ] On Behalf Of LILQT4U1984@... Sent: Monday, June 27, 2005 9:28 AM To: Subject: Re: skin or muscle biopsy A skin biopsy can test for all the complexes except Complex 1 deficiency. You would have to have a muscle biopsy to check your complex 1 activity. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 27, 2005 Report Share Posted June 27, 2005 I'm not sure what to do. I've asked my MDA doc, and my primary what they think. I haven't heard yet. I also asked the MDA doc to test the muscle they already have for mito. I understand because it's frozen the testing is very limited. If he'd diagnose me with mito in general, I'd probably leave it at that for now. I'm still not sure if the skin biopsy would be worth it. Kim > Thanks, . In that case, a skin biopsy would be a good option. > > > > B > > > > _____ > > From: [mailto: ] On Behalf > Of LILQT4U1984@a... > Sent: Monday, June 27, 2005 9:28 AM > To: > Subject: Re: skin or muscle biopsy > > > > A skin biopsy can test for all the complexes except Complex 1 deficiency. > You would have to have a muscle biopsy to check your complex 1 activity. > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 27, 2005 Report Share Posted June 27, 2005 Hi Kim, The reason I suggested that you think about having a skin biopsy instead of going for another muscle biopsy was to give you some down time. Some time to take a break from all of this medical stuff. A skin biopsy is simple and easy and can be shipped to were it needs to go, which will free you up from making any long distance trips right now. It was just a thought. Hugs, Ann-Marie At 12:35 PM 6/27/2005, you wrote: >I'm not sure what to do. I've asked my MDA doc, and my primary what >they think. I haven't heard yet. I also asked the MDA doc to test >the muscle they already have for mito. I understand because it's >frozen the testing is very limited. If he'd diagnose me with mito >in general, I'd probably leave it at that for now. >I'm still not sure if the skin biopsy would be worth it. >Kim > > > > Thanks, . In that case, a skin biopsy would be a good >option. > > > > > > > > B > > > > > > > > _____ > > > > From: [mailto: ] >On Behalf > > Of LILQT4U1984@a... > > Sent: Monday, June 27, 2005 9:28 AM > > To: > > Subject: Re: skin or muscle biopsy > > > > > > > > A skin biopsy can test for all the complexes except Complex 1 >deficiency. > > You would have to have a muscle biopsy to check your complex 1 >activity. > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 27, 2005 Report Share Posted June 27, 2005 Hi Kim, The reason I suggested that you think about having a skin biopsy instead of going for another muscle biopsy was to give you some down time. Some time to take a break from all of this medical stuff. A skin biopsy is simple and easy and can be shipped to were it needs to go, which will free you up from making any long distance trips right now. It was just a thought. Hugs, Ann-Marie At 12:35 PM 6/27/2005, you wrote: >I'm not sure what to do. I've asked my MDA doc, and my primary what >they think. I haven't heard yet. I also asked the MDA doc to test >the muscle they already have for mito. I understand because it's >frozen the testing is very limited. If he'd diagnose me with mito >in general, I'd probably leave it at that for now. >I'm still not sure if the skin biopsy would be worth it. >Kim > > > > Thanks, . In that case, a skin biopsy would be a good >option. > > > > > > > > B > > > > > > > > _____ > > > > From: [mailto: ] >On Behalf > > Of LILQT4U1984@a... > > Sent: Monday, June 27, 2005 9:28 AM > > To: > > Subject: Re: skin or muscle biopsy > > > > > > > > A skin biopsy can test for all the complexes except Complex 1 >deficiency. > > You would have to have a muscle biopsy to check your complex 1 >activity. > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 27, 2005 Report Share Posted June 27, 2005 Glad to know Dr. has moved. Also the news about the work Dr. Enns is doing with fibroblasts sounds very interesting. Keep us posted if you learn more. Barbara _____ From: [mailto: ] On Behalf Of Malilibear@... Sent: Monday, June 27, 2005 12:23 PM To: Subject: Re: skin or muscle biopsy In a message dated 6/27/2005 10:57:19 AM Eastern Standard Time, wheatchild@... writes: Actually, I believe all the inborn errors in fat metabolism (mitochondrial beta oxidation) can be diagnosed with a skin biopsy, assuming the right person is doing the assays. J. PhD in Texas is the fibroblast guru. Fibroblasts can be shipped, so there is no need to go to Texas. Dr is at The Children's Hospital of Philadelphia now. I think he moved there last fall, so his lab is there now, as well. Dr Enns at Stanford in CA is also doing testing with skin fibroblasts by looking at the complexes in a new way...something about looking at or using antibodies which has never been done before. I didn't really understand it, but it sounds really interesting. Malisa Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 27, 2005 Report Share Posted June 27, 2005 's skin biopsy evaluated at Mayo Clinic was positive for a Complex I Defect. Mayo is using a new technique that they believe is better at evaluating Complex I, III, and IV activity. I can ask Dr. Whiteman about it tomorrow if you'd like. We are currently at Mayo Clinic for appointments tomorrow. LILQT4U1984@... wrote:A skin biopsy can test for all the complexes except Complex 1 deficiency. You would have to have a muscle biopsy to check your complex 1 activity. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 27, 2005 Report Share Posted June 27, 2005 In a message dated 6/27/2005 7:49:04 PM Eastern Standard Time, servedogmom@... writes: 's skin biopsy evaluated at Mayo Clinic was positive for a Complex I Defect. Mayo is using a new technique that they believe is better at evaluating Complex I, III, and IV activity. I can ask Dr. Whiteman about it tomorrow if you'd like. We are currently at Mayo Clinic for appointments tomorrow. Hi Joanne, I'd be interested in hearing if they test for Complex 1 in other skin biopsies. My skin biopsy was sent to Toronto and we're waiting to hear the results. What do you think of Dr Whiteman? I don't think I've introduced myself to you...I'm 27 yrs old and have had symptoms, which we now know are due to mito, since the age of 14. I have significant GI dysmotility and have been on TPN since age 16, and started developing autonomic symptoms, muscle symptoms, and significant fatigue issues. a and I talk about how difficult it is to have mito at this age b/c we seem to be a minority. There are adults older than us and children younger than us but not many our age which makes it hard for us to know what our future holds. What ages did your girls get sick at? Malisa Quote Link to comment Share on other sites More sharing options...
Recommended Posts
Join the conversation
You are posting as a guest. If you have an account, sign in now to post with your account.
Note: Your post will require moderator approval before it will be visible.