Abstract
When tested, all autopsy-proven patients with Leigh's disease have had an inhibitor to the synthesis of thiamine triphosphate in their urine. The inhibitor is also present in obligate carriers and thiamine treatment produces a drop in the inhibition (Peds 51: 710, 1973).
Normally the inhibitor is not detectable in fibroblasts. However, when fibroblasts are grown in low thiamine media (dialyzed calf serum and no added thiamine), the inhibitor is demonstrable. These fibroblasts were washed, sonicated and deproteinized. 0.1 ml. of the deproteinized supernatant from normal fibroblasts inhibited 14.9 to 26.0%. The identically treated fibroblasts from four patients with Leigh's disease inhibited 51.1 to 67.8%. Fibroblasts from obligate carriers of Leigh's disease behaved like controls. The inhibitor from Leigh's disease fibroblasts was biochemically indistinguishable from the urine inhibitor.
This fibroblast assay offers a method to distinguish Leigh's disease patients from carriers and suggests a technique for prenatal diagnosis.
Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Murphy, J., Diven, W. & Craig, L. DETECTION OF LEIGH'S DISEASE IN FIBROBLASTS. Pediatr Res 8, 393 (1974). https://doi.org/10.1203/00006450-197404000-00316
Issue date:
DOI: https://doi.org/10.1203/00006450-197404000-00316
