Rapid detection of subunit c of mitochondrial ATP synthase in urine as a diagnostic screening method for neuronal ceroid-lipofuscinoses

Am J Med Genet. 1995 Jun 5;57(2):246-9. doi: 10.1002/ajmg.1320570227.

Abstract

Using Western blot analysis and the ELISA technique, we showed previously significantly higher levels of subunit c in the urine of individuals with late-infantile neuronal ceroid lipofuscinosis (LINCL) and some patients with juvenile NCL (JNCL) [Wisniewski et al., J. Inherited Metab Dis 17: 205-210, 1994]. In an attempt to develop a diagnostic screening test for NCL based on detection of this biochemical marker in urine, we analyzed, using the blotting technique, urine from 7 infantile NCL (INCL), 17 LINCL, and 19 JNCL cases, 30 obligate heterozygotes, and 60 control cases. This analysis confirmed our former data showing significantly higher levels of subunit c in the urine from all LINCL and some JNCL cases. No false positive results were found. This simple analytical method may serve as a fast, non-invasive screening test for NCL.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Blotting, Western
  • Enzyme-Linked Immunosorbent Assay
  • Genetic Carrier Screening
  • Humans
  • Infant
  • Macromolecular Substances
  • Mass Screening / methods
  • Microscopy, Immunoelectron
  • Neuronal Ceroid-Lipofuscinoses / diagnosis*
  • Neuronal Ceroid-Lipofuscinoses / enzymology
  • Neuronal Ceroid-Lipofuscinoses / urine
  • Nuclear Family
  • Proton-Translocating ATPases / urine*
  • Reference Values
  • Reproducibility of Results

Substances

  • Macromolecular Substances
  • Proton-Translocating ATPases