Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/48102
Share/Impact:
Título : A simple fluorogenic method for determination of acid ceramidase activity and diagnosis of Farber disease
Autor : Bedia Girbés, Carmen, Camacho, Luz, Abad, José Luis, Fabriàs, Gemma, Levade, Thierry
Palabras clave : Acid ceramidase
Farber disease
Diagnosis
Fluorogenic assay
Fecha de publicación : 2010
Editor: American Society for Biochemistry and Molecular Biology
Citación : Journal of Lipid Research
Resumen: Acid 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.
Versión del editor: http://dx.doi.org/10.1194/jlr.D010033
URI : http://hdl.handle.net/10261/48102
ISSN: 0022-2275
DOI: 10.1194/jlr.D010033
Appears in Collections:(IQAC) Artículos

Files in This Item:
There are no files associated with this item.
Show full item record
 
CSIC SFX LinksSFX Query


Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.