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Diagnosis of late‐infantile neuronal ceroid lipofuscinosis: A new sensitive method to assay lysosomal pepstatin‐insensitive proteinase activity in human and animal specimens by capillary electrophoresis
Author(s) -
Viglio Simona,
Marchi Elaine,
Wisniewski Krystyna,
Casado Begõna,
Cetta Giuseppe,
Iadarola Paolo
Publication year - 2001
Publication title -
electrophoresis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.666
H-Index - 158
eISSN - 1522-2683
pISSN - 0173-0835
DOI - 10.1002/1522-2683(20017)22:11<2343::aid-elps2343>3.0.co;2-2
Subject(s) - batten disease , pepstatin , neuronal ceroid lipofuscinosis , capillary electrophoresis , micellar electrokinetic chromatography , lysosomal storage disease , lipofuscin , mucolipidosis , biology , lysosome , chromatography , chemistry , disease , biochemistry , microbiology and biotechnology , pathology , enzyme , protease , medicine
Batten disease, or human late‐infantile neuronal ceroid lipofuscinosis (LINCL) is a familiar progressive degenerative disease affecting children, caused by a deficiency of a lysosomal proteinase (tripeptidyl peptidase I, TPP‐I) and characterized by the accumulation of autofluorescent storage bodies in the brain and other tissues of the body. Current methodology used to diagnose this disease needs to be improved in order to have less invasive techniques with higher resolution and shorter assay time. In this report, we discuss the potential merits of micellar electrokinetic chromatography as an excellent tool that requires minute samples but offers high resolution and a short running time for monitoring TPP‐I activity in human and animal specimens.