Increased urine concentration of subunit c of mitochondrial ATP synthase in neuronal ceroid lipofuscinoses patients
- 11 October 1993
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 17 (2) , 205-210
- https://doi.org/10.1007/bf00711619
Abstract
In searching for an easily available diagnostic test for the neuronal ceroid lipofuscinoses (NCL), we screened urine collected from 8 late-infantile and 12 juvenile NCL cases, 8 obligate heterozygotes, and 16 controls for the presence of subunit c of mitochondrial ATP synthase. Subunit c is a component of the storage material in brain and other tissues of various forms of NCL, apart from the infantile form. Using Western blot analysis and the ELISA technique, we have found significantly higher levels of subunit c in the urine of late-infantile and some juvenile patients. This finding may have clinical application in developing a diagnostic test for NCL.Keywords
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