from Mark Traponsky

[Guest guest]

Dear Groupies, I have just transferred this from the Canadian Mito

site. Mark Traponsky (*or however one spells his name) just posted it

there. I thought people might be interested in his comments about the

fresh vs frozen biopsy debate. Is this what he said at the mito

conferance?, Celia

The fresh vs frozen debate has raged for years with those doing fresh

saying that is the only way to go, with little to no hard evidence.

Thorburn from Austrailia has been doing RC enzymes for decades and

has published one of the major papers on diagnosis - He has good data

showing the robustness of frozen tissue. does primarily

frozen as well and he has been doing them longer than almost anyone and

is one of the premier people in the world in RC measurements. As long

as the tissue is frozen properly and the assays are sound, the frozen

biopsy contributes as much as the fresh (with the exception of complex V

defects, where the diagnosis is made by symptoms and DNA in any case).

An abnormality only on RC enzymes does not consititute a mito disease,

similarly, a normal RC activity on biopsy does not rule out the

disorder. Diagnosis relys on symptoms, blood work, urine organic acids,

exercise testing, muscle biopsy (RC and histology and EM), MRS, MRI,

DNA.