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

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...

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Autores principales: Dan, Phyllis, Edvardson, Simon, Bielawski, Jacek, Hama, Hiroko, Saada, Ann
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3107802/
https://www.ncbi.nlm.nih.gov/pubmed/21599921
http://dx.doi.org/10.1186/1476-511X-10-84
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author Dan, Phyllis
Edvardson, Simon
Bielawski, Jacek
Hama, Hiroko
Saada, Ann
author_facet Dan, Phyllis
Edvardson, Simon
Bielawski, Jacek
Hama, Hiroko
Saada, Ann
author_sort Dan, Phyllis
collection PubMed
description 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.
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spelling pubmed-31078022011-06-04 2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase Dan, Phyllis Edvardson, Simon Bielawski, Jacek Hama, Hiroko Saada, Ann Lipids Health Dis Research 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. BioMed Central 2011-05-20 /pmc/articles/PMC3107802/ /pubmed/21599921 http://dx.doi.org/10.1186/1476-511X-10-84 Text en Copyright ©2011 Dan et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 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.
spellingShingle Research
Dan, Phyllis
Edvardson, Simon
Bielawski, Jacek
Hama, Hiroko
Saada, Ann
2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase
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 Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3107802/
https://www.ncbi.nlm.nih.gov/pubmed/21599921
http://dx.doi.org/10.1186/1476-511X-10-84
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