Peroxisomal very long-chain fatty acid beta-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders
| Autor: | H. van den Bosch, Judith C. Heikoop, Ruud B.H. Schutgens, AndréW. Schram, C. W. T. van Roermund, R. J. A. Wanders, Bwee Tien Poll-The, M.J.A. van Wijland, Hugo W. Moser, Ann B. Moser, J. M. Saudubray, Joseph M. Tager |
|---|---|
| Přispěvatelé: | Other departments |
| Jazyk: | angličtina |
| Rok vydání: | 1987 |
| Předmět: |
Adult
medicine.medical_specialty Clinical Biochemistry Very long chain fatty acid Biology Biochemistry Cerebrohepatorenal syndrome Microbodies Lipid Metabolism Inborn Errors chemistry.chemical_compound Internal medicine Peroxisomal disorder medicine Humans Adrenoleukodystrophy Cells Cultured Skin Zellweger syndrome Brain Diseases Liver Diseases Biochemistry (medical) Fatty Acids General Medicine Syndrome Fibroblasts medicine.disease Infantile Refsum disease Endocrinology Refsum disease chemistry Female Kidney Diseases Refsum Disease Oxidation-Reduction Neonatal adrenoleukodystrophy |
| Zdroj: | Clinica chimica acta; international journal of clinical chemistry, 166(2-3), 255-263. Elsevier |
| ISSN: | 0009-8981 |
| DOI: | 10.1016/0009-8981(87)90428-1 |
| Popis: | Since very long-chain fatty acids with a chain length of 24 carbons or more are known to accumulate in tissues and body fluids from patients with the cerebrohepato-renal (Zellweger) syndrome, infantile Refsum disease, neonatal adrenoleukodystrophy and X-linked adrenoleukodystrophy, we studied very long-chain fatty acid oxidation in cultured skin fibroblasts from these patients. In this paper, we report that in accordance with earlier results the first step in the beta-oxidation of the very long-chain fatty acid lignoceric acid (C24:0) primarily occurs in peroxisomes in control human skin fibroblasts. Furthermore, it was found that peroxisomal lignoceric acid beta-oxidation was strongly deficient in fibroblasts from patients with Zellweger syndrome, infantile Refsum disease, neonatal and X-linked adrenoleukodystrophy, which explains for the accumulation of very long-chain fatty acids in all four disease entities. In Zellweger syndrome, infantile Refsum disease and neonatal adrenoleukodystrophy the impairment in peroxisomal very long-chain fatty acid beta-oxidation is probably caused by a strong deficiency of all peroxisomal beta-oxidation enzyme proteins due to a deficiency of peroxisomes. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|