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Title

A simple fluorogenic method for determination of acid ceramidase activity and diagnosis of Farber disease

AuthorsBedia Girbés, Carmen; Camacho, Luz; Abad, José Luis; Fabriàs, Gemma; Levade, Thierry
KeywordsAcid ceramidase
Farber disease
Diagnosis
Fluorogenic assay
Issue Date2010
PublisherAmerican Society for Biochemistry and Molecular Biology
CitationJournal of Lipid Research
AbstractAcid ceramidase (aCDase) is one of several enzymes responsible for ceramide degradation within mammalian cells. As such, aCDase regulates the intracellular levels of the bioactive lipid ceramide. An inherited deficiency of aCDase activity results in Farber disease (FD), also called lipogranulomatosis, which is characterized by ceramide accumulation in the tissues of patients. Diagnosis of FD is confirmed by demonstration of a deficient aCDase activity and the subsequent storage of ceramide. Existing methods include extremely complex assays, many of them using radiolabeled compounds. Therefore, the aCDase assay and the in vitro enzymatic diagnosis of FD are still performed in only a very limited number of specialized laboratories. Here, the new fluorogenic substrate Rbm14-12 was synthesized and characterized as a new tool to determine aCDase activity. The resulting optimized assay was performed in 96-well plates, and different fibroblast and lymphoid cell lines derived from FD patients and controls were tested to measure aCDase activity. As a result, the activity in cells of FD patients was found to be very low or even null. This new fluorogenic method offers a very easy and rapid way for specific and accurate determination of aCDase activity and, consequently, for diagnosis of FD.
Publisher version (URL)http://dx.doi.org/10.1194/jlr.D010033
URIhttp://hdl.handle.net/10261/48102
DOI10.1194/jlr.D010033
ISSN0022-2275
E-ISSN1539-7262
Appears in Collections:(IQAC) Artículos
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