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

Lipids in Health and Disease

Ann Saada¹  Hiroko Hama²  Jacek Bielawski²  Simon Edvardson³  Phyllis Dan¹ 

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

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

Others  :  1212643
DOI  :  10.1186/1476-511X-10-84

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

【 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】

   
2011 Dan et al; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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