Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors.
In recent years a growing number of inherited diseases have been recognized to originate from an impairment in one or more peroxisomal functions. Since it is well established that the first two steps in the biosynthesis of plasmalogens proceed in peroxisomes, we studied the biosynthesis of plasmalog...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
1988-03-01
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| Series: | Journal of Lipid Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0022227520385382 |
| _version_ | 1818647424518848512 |
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| author | G Schrakamp C G Schalkwijk R B Schutgens R J Wanders J M Tager H van den Bosch |
| author_facet | G Schrakamp C G Schalkwijk R B Schutgens R J Wanders J M Tager H van den Bosch |
| author_sort | G Schrakamp |
| collection | DOAJ |
| description | In recent years a growing number of inherited diseases have been recognized to originate from an impairment in one or more peroxisomal functions. Since it is well established that the first two steps in the biosynthesis of plasmalogens proceed in peroxisomes, we studied the biosynthesis of plasmalogens in cultured skin fibroblasts from patients with different peroxisomal and related disorders. When de novo plasmalogen biosynthesis was studied by growing the cells in the presence of [14C]hexadecanol, impaired plasmalogen biosynthesis was found in rhizomelic chondrodysplasia punctata, cerebrohepatorenal (Zellweger) syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. In all these cases, alkyl-acyl phospholipids, the precursors of plasmalogens, did not accumulate and 1-O-[9,10-3H2]octadecylglycerol was converted into plasmalogens with equal efficiency as in controls. This indicated that impaired de novo plasmalogen biosynthesis as measured by [14C]hexadecanol incorporation was due to a deficient formation of the glycero-ether bond. Using this procedure, normal de novo plasmalogen biosynthesis was found in X-linked adrenoleukodystrophy, adrenomyeloneuropathy, X-linked chondrodysplasia punctata, adult Refsum disease, as well as in heterozygotes for Zellweger syndrome and infantile Refsum disease. The data have indicated that the average extent of the deficiency in glycero-ether bond formation is different in Zellweger syndrome, chondrodysplasia punctata, neonatal adrenoleukodystrophy, and infantile Refsum disease. |
| first_indexed | 2024-12-17T01:02:19Z |
| format | Article |
| id | doaj.art-54d3f2ab9a6845fca4847e926a164b3d |
| institution | Directory Open Access Journal |
| issn | 0022-2275 |
| language | English |
| last_indexed | 2024-12-17T01:02:19Z |
| publishDate | 1988-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Lipid Research |
| spelling | doaj.art-54d3f2ab9a6845fca4847e926a164b3d2022-12-21T22:09:23ZengElsevierJournal of Lipid Research0022-22751988-03-01293325334Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors.G Schrakamp0C G Schalkwijk1R B Schutgens2R J Wanders3J M Tager4H van den Bosch5Laboratory of Biochemistry, University of Utrecht, The Netherlands.Laboratory of Biochemistry, University of Utrecht, The Netherlands.Laboratory of Biochemistry, University of Utrecht, The Netherlands.Laboratory of Biochemistry, University of Utrecht, The Netherlands.Laboratory of Biochemistry, University of Utrecht, The Netherlands.Laboratory of Biochemistry, University of Utrecht, The Netherlands.In recent years a growing number of inherited diseases have been recognized to originate from an impairment in one or more peroxisomal functions. Since it is well established that the first two steps in the biosynthesis of plasmalogens proceed in peroxisomes, we studied the biosynthesis of plasmalogens in cultured skin fibroblasts from patients with different peroxisomal and related disorders. When de novo plasmalogen biosynthesis was studied by growing the cells in the presence of [14C]hexadecanol, impaired plasmalogen biosynthesis was found in rhizomelic chondrodysplasia punctata, cerebrohepatorenal (Zellweger) syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. In all these cases, alkyl-acyl phospholipids, the precursors of plasmalogens, did not accumulate and 1-O-[9,10-3H2]octadecylglycerol was converted into plasmalogens with equal efficiency as in controls. This indicated that impaired de novo plasmalogen biosynthesis as measured by [14C]hexadecanol incorporation was due to a deficient formation of the glycero-ether bond. Using this procedure, normal de novo plasmalogen biosynthesis was found in X-linked adrenoleukodystrophy, adrenomyeloneuropathy, X-linked chondrodysplasia punctata, adult Refsum disease, as well as in heterozygotes for Zellweger syndrome and infantile Refsum disease. The data have indicated that the average extent of the deficiency in glycero-ether bond formation is different in Zellweger syndrome, chondrodysplasia punctata, neonatal adrenoleukodystrophy, and infantile Refsum disease.http://www.sciencedirect.com/science/article/pii/S0022227520385382 |
| spellingShingle | G Schrakamp C G Schalkwijk R B Schutgens R J Wanders J M Tager H van den Bosch Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors. Journal of Lipid Research |
| title | Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors. |
| title_full | Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors. |
| title_fullStr | Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors. |
| title_full_unstemmed | Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors. |
| title_short | Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors. |
| title_sort | plasmalogen biosynthesis in peroxisomal disorders fatty alcohol versus alkylglycerol precursors |
| url | http://www.sciencedirect.com/science/article/pii/S0022227520385382 |
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