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Journal of Inherited Metabolic Disease

, Volume 17, Issue 2, pp 205–210 | Cite as

Increased urine concentration of subunit c of mitochondrial ATP synthase in neuronal ceroid lipofuscinoses patients

  • K. E. Wisniewski
  • A. A. Golabek
  • E. Kida
Article

Summary

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

Public Health Western Blot Internal Medicine Blot Analysis Western Blot Analysis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© SSIEM and Kluwer Academic Publishers 1994

Authors and Affiliations

  • K. E. Wisniewski
    • 1
  • A. A. Golabek
    • 1
  • E. Kida
    • 1
    • 2
  1. 1.Department of Pathological NeurobiologyNew York State Office of Mental Retardation and Developmental Disabilities, Institute for Basic Research in Developmental DisabilitiesStaten IslandUSA
  2. 2.Department of Neuropathology, Medical Research CenterPolish Academy of SciencesWarsawPoland

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