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 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.
Wisniewski
K E
KE
New York State Institute for Basic Research in Developmental Disabilities, Department of Pathological Neurobiology, Staten Island 10314, USA.
Kaczmarski
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W
Golabek
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AA
Kida
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D000293:Adolescent; D015153:Blotting, Western; D004797:Enzyme-Linked Immunosorbent Assay; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D046911:Macromolecular Substances; D008403:Mass Screening / Q000379:methods; D016253:Microscopy, Immunoelectron; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000201:enzymology / Q000652:urine; D009679:Nuclear Family; D006180:Proton-Translocating ATPases / Q000652:urine*; D012016:Reference Values; D015203:Reproducibility of Results
D046911:Macromolecular Substances; D006180:Proton-Translocating ATPases