2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase
Open Access
- 20 May 2011
- journal article
- research article
- Published by Springer Science and Business Media LLC in Lipids in Health and Disease
- Vol. 10 (1), 84
- https://doi.org/10.1186/1476-511x-10-84
Abstract
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.Keywords
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