2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase

Lipids in Health and Disease

Research

Jacek Bielawski¹  Hiroko Hama¹  Phyllis Dan²  Ann Saada²  Simon Edvardson³ 

[1] Department of Biochemistry and Molecular Biology, Medical University of South Carolina, Charleston, SC, USA;Department of Genetics and Metabolic Diseases and the Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;Pediatric Neurology Unit Hadassah-Hebrew University Medical Center, Jerusalem, Israel;

关键词: Fatty acid hydroxylase;    hydroxylated fatty acid sphingomyelin;    autosomal recessive leukodystrophy;   

DOI  :  10.1186/1476-511X-10-84

 received in 2011-04-11, accepted in 2011-05-20,  发布年份 2011

来源: Springer

【 摘 要 】

Fatty acid 2-hydroxylase (FA2H) is the enzyme responsible for the hydroxylation of free fatty acids prior to their incorporation into 2-hydroxylated sphingolipids, which are the major constituents of the myelin leaflet. Mutated FA2H has been associated with neurodegenerative diseases. Decreased FA2H activity was demonstrated only in vitro, but not in patient tissues. In this study we characterized the 2-hydroxylated sphingomyelin (SM) profiles in blood and fibroblasts from patients harboring a deleterious FA2H mutatation, and found that hydroxylated fatty acid sphingomyelin is present in normal amounts in patient lymphocytes, but decreased to a different extent in fibroblasts and erythrocytes.

【 授权许可】

Unknown   
© Dan et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.