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Updated: Jul 19, 2026
03:32
Measurement of Chitinase Activity in Biological Samples
Published on: August 22, 2019
Acid ceramidase and human disease.
Jae-Ho Park1, Edward H Schuchman
1Department of Human Genetics, Mount Sinai School of Medicine, 1425 Madison Avenue, Room 14-20A, New York, NY 10029, USA.
Biochimica Et Biophysica Acta
|October 27, 2006
Summary
Acid ceramidase (AC) degrades ceramide and its deficiency causes Farber disease. AC also synthesizes ceramide and may be a target for cancer and other diseases.
Area of Science:
- Biochemistry
- Molecular Biology
- Human Genetics
Background:
- Acid ceramidase (AC) is a lysosomal lipid hydrolase catalyzing ceramide degradation.
- AC deficiency leads to Farber Lipogranulomatosis, a rare inherited metabolic disorder.
- AC exhibits dual catalytic activity: ceramide hydrolysis and synthesis at different pH optima.
Purpose of the Study:
- To review the biology of acid ceramidase.
- To explore the role of AC in human diseases, including Farber disease, cancer, and Alzheimer's disease.
- To discuss AC as a potential therapeutic target.
Main Methods:
- Literature review of existing studies on acid ceramidase.
- Analysis of genetic mutations causing Farber disease.
- Examination of AC expression and activity in various pathological conditions.
Main Results:
- AC's dual hydrolytic and synthetic functions suggest diverse cellular roles.
- Mutations in the AC gene are causative for Farber disease.
- Aberrant AC expression is linked to cancer and neurodegenerative diseases.
Conclusions:
- Acid ceramidase plays a critical role in lipid metabolism and human health.
- AC is implicated in Farber disease, cancer, Alzheimer's, and diabetes.
- AC inhibitors represent a promising therapeutic strategy for certain cancers.
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