A novel assay for lysosomal pepstatin-insensitive proteinase and its application for the diagnosis of late-infantile neuronal ceroid lipofuscinosis

Mohammed A. Junaid, Susan Sklower Brooks, Krystyna E. Wisniewski, Raju K. Pullarkat

Research output: Contribution to journalArticle

27 Scopus citations

Abstract

A highly sensitive assay for mammalian lysosomal pepstatin-insensitive proteinase (LPIP) is described using a synthetic peptide substrate coupled to aminotrifluoromethyl coumarin (AFC). LPIP is an endocarboxyl proteinase which has specific sequence requirements of Phe-Phe around the carboxyl terminal. This HPLC based assay can detect patients suffering from late-infantile neuronal ceroid lipofuscinosis (LINCL) and also heterozygote carriers in cultured lymphoid cells and skin fibroblasts. None of the patients analyzed had detectable enzyme activity confirming the defective gene product, while carriers had about 50% activity when compared with the normal controls. Neurological controls comprised of patients with other neurodegenerative disorders have LPIP activities similar to normal controls. LPIP activity is also detectable in amniocytes and chorionic villi. Thus the assay reported can also be used for prenatal diagnosis of LINCL. Copyright (C) 1999 Elsevier Science B.V.

Original languageEnglish (US)
Pages (from-to)169-176
Number of pages8
JournalClinica Chimica Acta
Volume281
Issue number1-2
DOIs
StatePublished - Mar 1 1999
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Clinical Biochemistry
  • Biochemistry, medical

Keywords

  • Batten disease
  • Cultured cells
  • Lysosome
  • Neuronal ceroid lipofuscinoses
  • Pepstatin-insensitive
  • Proteinase

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