2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase
<p>Abstract</p> <p>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 neuro...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2011-05-01
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| Series: | Lipids in Health and Disease |
| Subjects: | |
| Online Access: | http://www.lipidworld.com/content/10/1/84 |
| _version_ | 1818157338100498432 |
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| author | Saada Ann Hama Hiroko Bielawski Jacek Edvardson Simon Dan Phyllis |
| author_facet | Saada Ann Hama Hiroko Bielawski Jacek Edvardson Simon Dan Phyllis |
| author_sort | Saada Ann |
| collection | DOAJ |
| description | <p>Abstract</p> <p>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 <it>in vitro</it>, 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.</p> |
| first_indexed | 2024-12-11T15:12:36Z |
| format | Article |
| id | doaj.art-bfc905b951b44aeda5cdf3e271045648 |
| institution | Directory Open Access Journal |
| issn | 1476-511X |
| language | English |
| last_indexed | 2024-12-11T15:12:36Z |
| publishDate | 2011-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Lipids in Health and Disease |
| spelling | doaj.art-bfc905b951b44aeda5cdf3e2710456482022-12-22T01:00:43ZengBMCLipids in Health and Disease1476-511X2011-05-011018410.1186/1476-511X-10-842-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylaseSaada AnnHama HirokoBielawski JacekEdvardson SimonDan Phyllis<p>Abstract</p> <p>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 <it>in vitro</it>, 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.</p>http://www.lipidworld.com/content/10/1/84Fatty acid hydroxylasehydroxylated fatty acid sphingomyelinautosomal recessive leukodystrophy |
| spellingShingle | Saada Ann Hama Hiroko Bielawski Jacek Edvardson Simon Dan Phyllis 2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase Lipids in Health and Disease Fatty acid hydroxylase hydroxylated fatty acid sphingomyelin autosomal recessive leukodystrophy |
| title | 2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase |
| title_full | 2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase |
| title_fullStr | 2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase |
| title_full_unstemmed | 2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase |
| title_short | 2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase |
| title_sort | 2 hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2 hydroxylase |
| topic | Fatty acid hydroxylase hydroxylated fatty acid sphingomyelin autosomal recessive leukodystrophy |
| url | http://www.lipidworld.com/content/10/1/84 |
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