Immunoquantitative Analysis of Human Carnitine Palmitoyltransferase I and II Defects
| Autor: | France Demaugre, Jean-Paul Bonnefont, Claude Cepanec, Jasper Scholte, Jean-Marie Saudubray, Jean-Paul Leroux |
|---|---|
| Rok vydání: | 1990 |
| Předmět: |
medicine.medical_specialty
Immunoprecipitation Mitochondria Liver Cell Line Carnitine palmitoyltransferase deficiency Internal medicine medicine Humans chemistry.chemical_classification Carnitine O-Palmitoyltransferase biology Human liver Immune Sera Liver Diseases Muscles Fibroblasts Carnitine palmitoyltransferase activity Endocrinology Enzyme chemistry Cell culture Pediatrics Perinatology and Child Health biology.protein Carnitine palmitoyltransferase I Antibody Acyltransferases |
| Zdroj: | Pediatric Research. 27:497-500 |
| ISSN: | 1530-0447 0031-3998 |
| DOI: | 10.1203/00006450-199005000-00016 |
| Popis: | Carnitine palmitoyltransferase deficiency realizes two distinct clinical forms. We previously showed and confirmed in the present work that CPTII (identified as the carnitine palmitoyltransferase activity assayable in detergent conditions) is decreased in the muscular form whereas it is unaffected and CPTI is decreased in the hepatic form. The antibody previously prepared against human liver mitochondrial CPTII recognizes the same enzyme in muscle, liver, and fibroblasts. Immunoprecipitation experiments were performed in fibroblasts from patients with the muscular and hepatic forms of the defect. As compared with controls, cell lines from two patients with the hepatic form of the defect did not exhibit any qualitative nor quantitative abnormality of cross-reacting material, whereas cell lines from two patients with the muscular form of the defect exhibited a decreased amount of cross-reacting material. These data suggest that CPTII deficiency could result from a decreased production of protein. The amount of cross-reacting material in the two sets of patients only correlates with CPTII activity, which is decreased in the muscular presentation and unaffected in the hepatic form. These results strengthen the hypothesis of distinct proteins supporting CPTI and CPTII activities. |
| Databáze: | OpenAIRE |
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