RAPID DETECTION OF SUBUNIT-C OF MITOCHONDRIAL ATP SYNTHASE IN URINE AS A DIAGNOSTIC SCREENING METHOD FOR NEURONAL CEROID-LIPOFUSCINOSES

Using Western blot analysis and the ELISA technique, we showed previou sly significantly higher levels of subunit c in the urine of individua ls with late-infantile neuronal ceroid lipofuscinosis (LINCL) and some patients with juvenile NCL (JNCL) [Wisniewski et al., J Inherited Met ab Dis 17: 205-210, 1994], In an attempt to develop a diagnostic scree ning test for NCL based on detection of this biochemical marker in uri ne, we analyzed, using the blotting technique, urine from 7 infantile NCL (INCL), 17 LINCL, and 19 JNCL cases, 30 obligate heterozygotes, an d 60 control cases, This analysis confirmed our former data showing si gnificantly higher levels of subunit c in the urine from all LINCL and some JNCL cases, No false positive results were found, This simple an alytical method may serve as a fast, non-invasive screening test for N CL. (C) 1995 Wiley-Liss, Inc.